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    EPB41 erythrocyte membrane protein band 4.1 [ Homo sapiens (human) ]

    Gene ID: 2035, updated on 4-Feb-2024

    Summary

    Official Symbol
    EPB41provided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.1provided by HGNC
    Primary source
    HGNC:HGNC:3377
    See related
    Ensembl:ENSG00000159023 MIM:130500; AllianceGenome:HGNC:3377
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HE; EL1; 4.1R
    Summary
    The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.2), lymph node (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPB41 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28887100..29120041)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28729007..28962697)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (29213612..29446553)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29063168-29064066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29069801-29070309 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:29074507-29074730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29075305-29075826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29075827-29076347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29081023-29081522 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29089259-29089760 Neighboring gene Sharpr-MPRA regulatory region 15715 Neighboring gene YTH N6-methyladenosine RNA binding protein F2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 606 Neighboring gene NANOG hESC enhancer GRCh37_chr1:29133560-29134067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29141619-29142120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29161670-29162170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29162171-29162671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29181461-29181962 Neighboring gene opioid receptor delta 1 Neighboring gene CRISPRi-validated cis-regulatory element chr1.4082 Neighboring gene GATA motif-containing MPRA enhancer 282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 608 Neighboring gene uncharacterized LOC124903886 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:29292005-29292535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29292536-29293065 Neighboring gene MPRA-validated peak137 silencer Neighboring gene Sharpr-MPRA regulatory region 9156 Neighboring gene ribosomal protein L27 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29449829-29450688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29450689-29451548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29451549-29452408 Neighboring gene transmembrane protein 200B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29482895-29483396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29490994-29491614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29504446-29504946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29508465-29509102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29509103-29509740 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513125-29513770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513771-29514415 Neighboring gene serine and arginine rich splicing factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29524789-29525289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29535731-29536232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 610 Neighboring gene uncharacterized LOC124903887 Neighboring gene mitochondrial trans-2-enoyl-CoA reductase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Elliptocytosis 1
    MedGen: C2678497 OMIM: 611804 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated erythrocyte membrane protein band 4.1 (EPB41) protein is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoprotein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables spectrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural constituent of cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cortical actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of intestinal absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cortical cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in spectrin-associated cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    protein 4.1
    Names
    EPB4.1
    P4.1
    band 4.1
    elliptocytosis 1, RH-linked
    erythrocyte surface protein band 4.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013344.1 RefSeqGene

      Range
      32479..237951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166005.2NP_001159477.1  protein 4.1 isoform 1

      See identical proteins and their annotated locations for NP_001159477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS53288.1
      UniProtKB/Swiss-Prot
      B1ALH8, B1ALH9, D3DPM9, D3DPN0, P11171, P11176, Q14245, Q5TB35, Q5VXN8, Q8IXV9, Q9Y578, Q9Y579
      UniProtKB/TrEMBL
      Q59F12
      Related
      ENSP00000362904.1, ENST00000373798.5
      Conserved Domains (5) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:668715
      SAB; SAB domain
      pfam05902
      Location:754860
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    2. NM_001166006.2NP_001159478.1  protein 4.1 isoform 3

      See identical proteins and their annotated locations for NP_001159478.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs at the 5' and 3' ends, and is missing an internal, in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL009181, BC039079, DA480006
      Consensus CDS
      CCDS53289.1
      UniProtKB/TrEMBL
      A0A2R8Y6G5
      Related
      ENSP00000362903.1, ENST00000373797.2
      Conserved Domains (6) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:653699
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    3. NM_001166007.2NP_001159479.1  protein 4.1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate acceptor splice site at an exon at the 5' end, and is missing three short, internal, in-frame coding exons compared to variant 1. This results in translation start from a downstream AUG and a shorter isoform (5) compared to isoform 1.
      Source sequence(s)
      AB209649, AI076831, BC113841
      Consensus CDS
      CCDS85947.1
      UniProtKB/TrEMBL
      A0A2R8Y7Y3, Q4VB86
      Related
      ENSP00000496326.1, ENST00000647103.1
      Conserved Domains (7) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:87192
      FERM_M; FERM central domain
      pfam04382
      Location:406450
      SAB; SAB domain
      pfam05902
      Location:491597
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
      pfam09379
      Location:565
      FERM_N; FERM N-terminal domain
    4. NM_001376013.1NP_001362942.1  protein 4.1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS53288.1
      UniProtKB/Swiss-Prot
      B1ALH8, B1ALH9, D3DPM9, D3DPN0, P11171, P11176, Q14245, Q5TB35, Q5VXN8, Q8IXV9, Q9Y578, Q9Y579
      UniProtKB/TrEMBL
      Q59F12
      Related
      ENSP00000345259.4, ENST00000343067.9
      Conserved Domains (5) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:668715
      SAB; SAB domain
      pfam05902
      Location:754860
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    5. NM_001376014.1NP_001362943.1  protein 4.1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS90900.1
      UniProtKB/TrEMBL
      A0A2U3TZH6, Q59F12
      Related
      ENSP00000317597.8, ENST00000349460.9
      Conserved Domains (5) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:633680
      SAB; SAB domain
      pfam05902
      Location:731837
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    6. NM_001376015.1NP_001362944.1  protein 4.1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (5) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:633680
      SAB; SAB domain
      pfam05902
      Location:719825
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    7. NM_001376016.1NP_001362945.1  protein 4.1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS90899.1
      UniProtKB/TrEMBL
      A0A3B3IU06, A0A994J847
      Related
      ENSP00000516349.1, ENST00000706361.1
      Conserved Domains (4) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:668715
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    8. NM_001376017.1NP_001362946.1  protein 4.1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS90898.1
      UniProtKB/TrEMBL
      A0A2R8Y570, A0A2R8Y5Z6
      Related
      ENSP00000494945.1, ENST00000644600.1
      Conserved Domains (4) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:668715
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    9. NM_001376018.1NP_001362947.1  protein 4.1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y570
      Conserved Domains (4) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:667714
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    10. NM_001376019.1NP_001362948.1  protein 4.1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS90897.1
      UniProtKB/TrEMBL
      A0A2R8Y570, A0A2R8Y5G2
      Related
      ENSP00000494435.1, ENST00000643604.1
      Conserved Domains (4) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:668715
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    11. NM_001376020.1NP_001362949.1  protein 4.1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y570
      Conserved Domains (4) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:667714
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    12. NM_001376021.1NP_001362950.1  protein 4.1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y570
      Conserved Domains (4) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:615661
      SAB; SAB domain
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
    13. NM_001376022.1NP_001362951.1  protein 4.1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS90901.1
      UniProtKB/TrEMBL
      A0A2R8YD30, Q4VB86
      Related
      ENSP00000494212.1, ENST00000642937.2
      Conserved Domains (5) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:459506
      SAB; SAB domain
      pfam05902
      Location:545651
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    14. NM_001376023.1NP_001362952.1  protein 4.1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y7N0
      Related
      ENSP00000496138.1, ENST00000646189.1
      Conserved Domains (4) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:459506
      SAB; SAB domain
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    15. NM_001376024.1NP_001362953.1  protein 4.1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y420
      Conserved Domains (4) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:459506
      SAB; SAB domain
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    16. NM_001376025.1NP_001362954.1  protein 4.1 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y420
      Related
      ENSP00000493575.1, ENST00000646800.1
      Conserved Domains (4) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:459506
      SAB; SAB domain
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    17. NM_001376026.1NP_001362955.1  protein 4.1 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      Consensus CDS
      CCDS90902.1
      UniProtKB/TrEMBL
      A0A2R8Y420, A0A2R8Y6D0
      Related
      ENSP00000495138.1, ENST00000644342.1
      Conserved Domains (4) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:423470
      SAB; SAB domain
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    18. NM_001376027.1NP_001362956.1  protein 4.1 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y7N0
      Conserved Domains (4) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:406452
      SAB; SAB domain
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    19. NM_001376028.1NP_001362957.1  protein 4.1 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AL009181, AL138785, AL357500
      UniProtKB/TrEMBL
      A0A2R8Y7N0
      Conserved Domains (4) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:405451
      SAB; SAB domain
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
    20. NM_004437.4NP_004428.1  protein 4.1 isoform 6

      See identical proteins and their annotated locations for NP_004428.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate acceptor splice site at an exon at the 5' end, and is missing several short, internal, in-frame coding exons compared to variant 1. This results in translation start from a downstream AUG and a shorter isoform (6) compared to isoform 1.
      Source sequence(s)
      AB209649, AI076831, AL138785, BC039079, M14993
      Consensus CDS
      CCDS331.1
      UniProtKB/TrEMBL
      Q4VB86
      Related
      ENSP00000362906.3, ENST00000373800.7
      Conserved Domains (7) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:87192
      FERM_M; FERM central domain
      pfam04382
      Location:425471
      SAB; SAB domain
      pfam05902
      Location:512584
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
      pfam09379
      Location:565
      FERM_N; FERM N-terminal domain
    21. NM_203342.3NP_976217.1  protein 4.1 isoform 4

      See identical proteins and their annotated locations for NP_976217.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an additional exon at the 5' end, and is missing an internal, in-frame coding exon compared to variant 1. This results in translation start from a downstream AUG and a shorter isoform (4) compared to isoform 1.
      Source sequence(s)
      AB209649, AI076831, AL138785, BC039079, J03796
      UniProtKB/TrEMBL
      Q4VB86
      Conserved Domains (7) summary
      smart00295
      Location:2192
      B41; Band 4.1 homologues
      cd13184
      Location:187280
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:87192
      FERM_M; FERM central domain
      pfam04382
      Location:444490
      SAB; SAB domain
      pfam05902
      Location:531637
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:290332
      FA; FERM adjacent (FA)
      pfam09379
      Location:565
      FERM_N; FERM N-terminal domain
    22. NM_203343.3NP_976218.1  protein 4.1 isoform 2

      See identical proteins and their annotated locations for NP_976218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing several short, internal, in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.
      Source sequence(s)
      AB209649, AI076831, J03796
      Consensus CDS
      CCDS330.1
      UniProtKB/TrEMBL
      Q59F12
      Related
      ENSP00000290100.6, ENST00000347529.7
      Conserved Domains (6) summary
      smart00295
      Location:211366
      B41; Band 4.1 homologues
      cd13184
      Location:361454
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:261366
      FERM_M; FERM central domain
      pfam04382
      Location:580624
      SAB; SAB domain
      pfam05902
      Location:665771
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:464506
      FA; FERM adjacent (FA)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      28887100..29120041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245760.2XP_005245817.1  protein 4.1 isoform X17

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:667713
      SAB; SAB domain
      pfam05902
      Location:771877
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    2. XM_005245753.2XP_005245810.1  protein 4.1 isoform X1

      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:667713
      SAB; SAB domain
      pfam05902
      Location:9041010
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    3. XM_047449004.1XP_047304960.1  protein 4.1 isoform X26

      UniProtKB/TrEMBL
      Q59F12
    4. XM_005245768.2XP_005245825.1  protein 4.1 isoform X30

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:667713
      SAB; SAB domain
      pfam05902
      Location:731817
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    5. XM_047448981.1XP_047304937.1  protein 4.1 isoform X18

      UniProtKB/TrEMBL
      Q59F12
    6. XM_047448937.1XP_047304893.1  protein 4.1 isoform X3

      UniProtKB/TrEMBL
      Q59F12
    7. XM_047448961.1XP_047304917.1  protein 4.1 isoform X9

      UniProtKB/TrEMBL
      Q59F12
    8. XM_005245763.2XP_005245820.1  protein 4.1 isoform X20

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:653699
      SAB; SAB domain
      pfam05902
      Location:740846
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    9. XM_047449028.1XP_047304984.1  protein 4.1 isoform X32

      UniProtKB/TrEMBL
      Q59F12
    10. XM_047449035.1XP_047304991.1  protein 4.1 isoform X35

      UniProtKB/TrEMBL
      Q59F12
    11. XM_005245757.2XP_005245814.1  protein 4.1 isoform X7

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:633678
      SAB; SAB domain
      pfam05902
      Location:869975
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    12. XM_047448967.1XP_047304923.1  protein 4.1 isoform X14

      UniProtKB/TrEMBL
      Q59F12
    13. XM_047449045.1XP_047305001.1  protein 4.1 isoform X39

      UniProtKB/TrEMBL
      Q59F12
    14. XM_047449049.1XP_047305005.1  protein 4.1 isoform X43

      UniProtKB/TrEMBL
      Q59F12
    15. XM_047448994.1XP_047304950.1  protein 4.1 isoform X22

      UniProtKB/TrEMBL
      Q59F12
    16. XM_047448948.1XP_047304904.1  protein 4.1 isoform X5

      UniProtKB/TrEMBL
      Q59F12
    17. XM_047448965.1XP_047304921.1  protein 4.1 isoform X12

      UniProtKB/TrEMBL
      Q59F12
    18. XM_005245764.2XP_005245821.1  protein 4.1 isoform X24

      See identical proteins and their annotated locations for XP_005245821.1

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:634680
      SAB; SAB domain
      pfam05902
      Location:721827
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    19. XM_047449041.1XP_047304997.1  protein 4.1 isoform X37

      UniProtKB/TrEMBL
      Q59F12
    20. XM_047449047.1XP_047305003.1  protein 4.1 isoform X41

      UniProtKB/TrEMBL
      Q59F12
    21. XM_047449018.1XP_047304974.1  protein 4.1 isoform X29

      UniProtKB/TrEMBL
      Q59F12
    22. XM_047448962.1XP_047304918.1  protein 4.1 isoform X10

      UniProtKB/TrEMBL
      Q59F12
    23. XM_047448975.1XP_047304931.1  protein 4.1 isoform X16

      UniProtKB/TrEMBL
      Q59F12
    24. XM_005245769.2XP_005245826.1  protein 4.1 isoform X33

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:615659
      SAB; SAB domain
      pfam05902
      Location:700806
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    25. XM_047449056.1XP_047305012.1  protein 4.1 isoform X45

      UniProtKB/TrEMBL
      Q59F12
    26. XM_005245774.2XP_005245831.1  protein 4.1 isoform X47

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:615659
      SAB; SAB domain
      pfam05902
      Location:677763
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    27. XM_047448932.1XP_047304888.1  protein 4.1 isoform X2

    28. XM_047448985.1XP_047304941.1  protein 4.1 isoform X19

      UniProtKB/TrEMBL
      Q59F12
    29. XM_047449012.1XP_047304968.1  protein 4.1 isoform X27

      UniProtKB/TrEMBL
      Q59F12
    30. XM_047449026.1XP_047304982.1  protein 4.1 isoform X31

      UniProtKB/TrEMBL
      Q59F12
    31. XM_047448939.1XP_047304895.1  protein 4.1 isoform X4

      UniProtKB/TrEMBL
      Q59F12
    32. XM_047448992.1XP_047304948.1  protein 4.1 isoform X21

      UniProtKB/TrEMBL
      Q59F12
    33. XM_047449039.1XP_047304995.1  protein 4.1 isoform X36

      UniProtKB/TrEMBL
      Q59F12
    34. XM_047448957.1XP_047304913.1  protein 4.1 isoform X8

      UniProtKB/TrEMBL
      Q59F12
    35. XM_047448969.1XP_047304925.1  protein 4.1 isoform X15

      UniProtKB/TrEMBL
      Q59F12
    36. XM_047449016.1XP_047304972.1  protein 4.1 isoform X28

      UniProtKB/TrEMBL
      Q59F12
    37. XM_047449046.1XP_047305002.1  protein 4.1 isoform X40

      UniProtKB/TrEMBL
      Q59F12
    38. XM_047449053.1XP_047305009.1  protein 4.1 isoform X44

      UniProtKB/TrEMBL
      Q59F12
    39. XM_047448995.1XP_047304951.1  protein 4.1 isoform X23

      UniProtKB/TrEMBL
      Q59F12
    40. XM_047448950.1XP_047304906.1  protein 4.1 isoform X6

      UniProtKB/TrEMBL
      Q59F12
    41. XM_047448966.1XP_047304922.1  protein 4.1 isoform X13

      UniProtKB/TrEMBL
      Q59F12
    42. XM_047448997.1XP_047304953.1  protein 4.1 isoform X25

      UniProtKB/TrEMBL
      Q59F12
    43. XM_047449043.1XP_047304999.1  protein 4.1 isoform X38

      UniProtKB/TrEMBL
      Q59F12
    44. XM_047449048.1XP_047305004.1  protein 4.1 isoform X42

      UniProtKB/TrEMBL
      Q59F12
    45. XM_047448964.1XP_047304920.1  protein 4.1 isoform X11

      UniProtKB/TrEMBL
      Q59F12
    46. XM_005245770.2XP_005245827.1  protein 4.1 isoform X34

      UniProtKB/TrEMBL
      Q59F12
      Conserved Domains (7) summary
      smart00295
      Location:211401
      B41; Band 4.1 homologues
      cd13184
      Location:396489
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam00373
      Location:296401
      FERM_M; FERM central domain
      pfam04382
      Location:614658
      SAB; SAB domain
      pfam05902
      Location:699805
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:499541
      FA; FERM adjacent (FA)
      pfam09379
      Location:214274
      FERM_N; FERM N-terminal domain
    47. XM_047449060.1XP_047305016.1  protein 4.1 isoform X46

      UniProtKB/TrEMBL
      Q59F12
    48. XM_047449061.1XP_047305017.1  protein 4.1 isoform X48

      UniProtKB/TrEMBL
      Q59F12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28729007..28962697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335001.1XP_054190976.1  protein 4.1 isoform X17

      UniProtKB/TrEMBL
      Q59F12
    2. XM_054334985.1XP_054190960.1  protein 4.1 isoform X1

    3. XM_054335010.1XP_054190985.1  protein 4.1 isoform X26

      UniProtKB/TrEMBL
      Q59F12
    4. XM_054335014.1XP_054190989.1  protein 4.1 isoform X30

      UniProtKB/TrEMBL
      Q59F12
    5. XM_054335002.1XP_054190977.1  protein 4.1 isoform X18

      UniProtKB/TrEMBL
      Q59F12
    6. XM_054334987.1XP_054190962.1  protein 4.1 isoform X3

      UniProtKB/TrEMBL
      Q59F12
    7. XM_054334993.1XP_054190968.1  protein 4.1 isoform X9

      UniProtKB/TrEMBL
      Q59F12
    8. XM_054335004.1XP_054190979.1  protein 4.1 isoform X20

      UniProtKB/TrEMBL
      Q59F12
    9. XM_054335016.1XP_054190991.1  protein 4.1 isoform X32

      UniProtKB/TrEMBL
      Q59F12
    10. XM_054335019.1XP_054190994.1  protein 4.1 isoform X35

      UniProtKB/TrEMBL
      Q59F12
    11. XM_054334991.1XP_054190966.1  protein 4.1 isoform X7

      UniProtKB/TrEMBL
      Q59F12
    12. XM_054334998.1XP_054190973.1  protein 4.1 isoform X14

      UniProtKB/TrEMBL
      Q59F12
    13. XM_054335023.1XP_054190998.1  protein 4.1 isoform X39

      UniProtKB/TrEMBL
      Q59F12
    14. XM_054335027.1XP_054191002.1  protein 4.1 isoform X43

      UniProtKB/TrEMBL
      Q59F12
    15. XM_054335006.1XP_054190981.1  protein 4.1 isoform X22

      UniProtKB/TrEMBL
      Q59F12
    16. XM_054334989.1XP_054190964.1  protein 4.1 isoform X5

      UniProtKB/TrEMBL
      Q59F12
    17. XM_054334996.1XP_054190971.1  protein 4.1 isoform X12

      UniProtKB/TrEMBL
      Q59F12
    18. XM_054335008.1XP_054190983.1  protein 4.1 isoform X24

      UniProtKB/TrEMBL
      Q59F12
    19. XM_054335021.1XP_054190996.1  protein 4.1 isoform X37

      UniProtKB/TrEMBL
      Q59F12
    20. XM_054335025.1XP_054191000.1  protein 4.1 isoform X41

      UniProtKB/TrEMBL
      Q59F12
    21. XM_054335013.1XP_054190988.1  protein 4.1 isoform X29

      UniProtKB/TrEMBL
      Q59F12
    22. XM_054334994.1XP_054190969.1  protein 4.1 isoform X10

      UniProtKB/TrEMBL
      Q59F12
    23. XM_054335000.1XP_054190975.1  protein 4.1 isoform X16

      UniProtKB/TrEMBL
      Q59F12
    24. XM_054335017.1XP_054190992.1  protein 4.1 isoform X33

      UniProtKB/TrEMBL
      Q59F12
    25. XM_054335029.1XP_054191004.1  protein 4.1 isoform X45

      UniProtKB/TrEMBL
      Q59F12
    26. XM_054335031.1XP_054191006.1  protein 4.1 isoform X47

      UniProtKB/TrEMBL
      Q59F12
    27. XM_054334986.1XP_054190961.1  protein 4.1 isoform X2

    28. XM_054335003.1XP_054190978.1  protein 4.1 isoform X19

      UniProtKB/TrEMBL
      Q59F12
    29. XM_054335011.1XP_054190986.1  protein 4.1 isoform X27

      UniProtKB/TrEMBL
      Q59F12
    30. XM_054335015.1XP_054190990.1  protein 4.1 isoform X31

      UniProtKB/TrEMBL
      Q59F12
    31. XM_054334988.1XP_054190963.1  protein 4.1 isoform X4

      UniProtKB/TrEMBL
      Q59F12
    32. XM_054335005.1XP_054190980.1  protein 4.1 isoform X21

      UniProtKB/TrEMBL
      Q59F12
    33. XM_054335020.1XP_054190995.1  protein 4.1 isoform X36

      UniProtKB/TrEMBL
      Q59F12
    34. XM_054334992.1XP_054190967.1  protein 4.1 isoform X8

      UniProtKB/TrEMBL
      Q59F12
    35. XM_054334999.1XP_054190974.1  protein 4.1 isoform X15

      UniProtKB/TrEMBL
      Q59F12
    36. XM_054335012.1XP_054190987.1  protein 4.1 isoform X28

      UniProtKB/TrEMBL
      Q59F12
    37. XM_054335024.1XP_054190999.1  protein 4.1 isoform X40

      UniProtKB/TrEMBL
      Q59F12
    38. XM_054335028.1XP_054191003.1  protein 4.1 isoform X44

      UniProtKB/TrEMBL
      Q59F12
    39. XM_054335007.1XP_054190982.1  protein 4.1 isoform X23

      UniProtKB/TrEMBL
      Q59F12
    40. XM_054334990.1XP_054190965.1  protein 4.1 isoform X6

      UniProtKB/TrEMBL
      Q59F12
    41. XM_054334997.1XP_054190972.1  protein 4.1 isoform X13

      UniProtKB/TrEMBL
      Q59F12
    42. XM_054335009.1XP_054190984.1  protein 4.1 isoform X25

      UniProtKB/TrEMBL
      Q59F12
    43. XM_054335022.1XP_054190997.1  protein 4.1 isoform X38

      UniProtKB/TrEMBL
      Q59F12
    44. XM_054335026.1XP_054191001.1  protein 4.1 isoform X42

      UniProtKB/TrEMBL
      Q59F12
    45. XM_054334995.1XP_054190970.1  protein 4.1 isoform X11

      UniProtKB/TrEMBL
      Q59F12
    46. XM_054335018.1XP_054190993.1  protein 4.1 isoform X34

      UniProtKB/TrEMBL
      Q59F12
    47. XM_054335030.1XP_054191005.1  protein 4.1 isoform X46

      UniProtKB/TrEMBL
      Q59F12
    48. XM_054335032.1XP_054191007.1  protein 4.1 isoform X48

      UniProtKB/TrEMBL
      Q59F12