U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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