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EPB41L1 erythrocyte membrane protein band 4.1 like 1 [ Homo sapiens (human) ]

Gene ID: 2036, updated on 6-Nov-2022

Summary

Official Symbol
EPB41L1provided by HGNC
Official Full Name
erythrocyte membrane protein band 4.1 like 1provided by HGNC
Primary source
HGNC:HGNC:3378
See related
Ensembl:ENSG00000088367 MIM:602879; AllianceGenome:HGNC:3378
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
4.1N; MRD11
Summary
Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Expression
Broad expression in brain (RPKM 24.1), adrenal (RPKM 21.5) and 21 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See EPB41L1 in Genome Data Viewer
Location:
20q11.23
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36091414..36232799)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37812399..37953498)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34679336..34820721)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene non-coding RNA activated by DNA damage Neighboring gene high mobility group box 3 pseudogene 2 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124904893 Neighboring gene EPB41L1 antisense RNA 1 Neighboring gene uncharacterized LOC124904892 Neighboring gene Sharpr-MPRA regulatory region 2694 Neighboring gene uncharacterized LOC105372602 Neighboring gene AAR2 splicing factor Neighboring gene DLG associated protein 4 Neighboring gene DLGAP4 antisense RNA 1

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
Intellectual disability, autosomal dominant 11
MedGen: C3280285 OMIM: 614257 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0338, MGC11072, DKFZp686H17242

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cortical actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
band 4.1-like protein 1
Names
neuron-type nonerythroid protein 4.1
neuronal protein 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_031853.3 RefSeqGene

    Range
    68237..146296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258329.1NP_001245258.1  band 4.1-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_001245258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
    Source sequence(s)
    AK299817, AL121895, BC040259
    Consensus CDS
    CCDS58771.1
    UniProtKB/Swiss-Prot
    Q9H4G0
    UniProtKB/TrEMBL
    A0A0C4DH22, B7Z653
    Related
    ENSP00000363057.4, ENST00000373946.7
    Conserved Domains (7) summary
    smart00295
    Location:99288
    B41; Band 4.1 homologues
    cd13184
    Location:283376
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam00373
    Location:183288
    FERM_M; FERM central domain
    pfam04382
    Location:493524
    SAB; SAB domain
    pfam05902
    Location:790867
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:385425
    FA; FERM adjacent (FA)
    pfam09379
    Location:101164
    FERM_N; FERM N-terminal domain
  2. NM_001258330.1NP_001245259.1  band 4.1-like protein 1 isoform d

    See identical proteins and their annotated locations for NP_001245259.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus and lacks two alternate internal segments compared to isoform a.
    Source sequence(s)
    AK126875, AK299817, AL121895
    Consensus CDS
    CCDS58770.1
    UniProtKB/Swiss-Prot
    Q9H4G0
    UniProtKB/TrEMBL
    B7Z653
    Related
    ENSP00000487049.2, ENST00000628415.2
    Conserved Domains (5) summary
    smart00295
    Location:68257
    B41; Band 4.1 homologues
    cd13184
    Location:252345
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:451481
    SAB; SAB domain
    pfam05902
    Location:595688
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:354395
    FA; FERM adjacent (FA)
  3. NM_001258331.2NP_001245260.1  band 4.1-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001245260.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) is shorter at the N-terminus and lacks two alternate internal segments compared to isoform a. Variants 2 and 5 both encode the same isoform (b).
    Source sequence(s)
    AL035420, AL121895, BC013885
    Consensus CDS
    CCDS13272.1
    UniProtKB/Swiss-Prot
    Q9H4G0
    Related
    ENSP00000202028.5, ENST00000202028.9
    Conserved Domains (6) summary
    smart00295
    Location:37226
    B41; Band 4.1 homologues
    cd13184
    Location:221314
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:420450
    SAB; SAB domain
    pfam05902
    Location:673766
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:323364
    FA; FERM adjacent (FA)
    cl26247
    Location:334525
    DNA_pol3_delta2; DNA polymerase III, delta subunit
  4. NM_012156.2NP_036288.2  band 4.1-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_036288.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AB002336, AL121895, DB503878
    Consensus CDS
    CCDS13271.1
    UniProtKB/Swiss-Prot
    Q96L65, Q9H4G0
    Related
    ENSP00000337168.2, ENST00000338074.7
    Conserved Domains (7) summary
    smart00295
    Location:99288
    B41; Band 4.1 homologues
    cd13184
    Location:283376
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam00373
    Location:183288
    FERM_M; FERM central domain
    pfam04382
    Location:493524
    SAB; SAB domain
    pfam05902
    Location:791868
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:385425
    FA; FERM adjacent (FA)
    pfam09379
    Location:101164
    FERM_N; FERM N-terminal domain
  5. NM_177996.2NP_818932.1  band 4.1-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_818932.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a different 5' UTR and multiple coding region differences compared to variant 1. The resulting isoform (b) has a shorter N-terminus and lacks two in-frame segments compared to isoform a. Variants 2 and 5 both encode the same isoform (b).
    Source sequence(s)
    AK299817, AL121895, BC013885
    Consensus CDS
    CCDS13272.1
    UniProtKB/Swiss-Prot
    Q9H4G0
    UniProtKB/TrEMBL
    B7Z653
    Related
    ENSP00000399214.1, ENST00000441639.5
    Conserved Domains (6) summary
    smart00295
    Location:37226
    B41; Band 4.1 homologues
    cd13184
    Location:221314
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:420450
    SAB; SAB domain
    pfam05902
    Location:673766
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:323364
    FA; FERM adjacent (FA)
    cl26247
    Location:334525
    DNA_pol3_delta2; DNA polymerase III, delta subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    36091414..36232799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439972.1XP_047295928.1  band 4.1-like protein 1 isoform X10

  2. XM_047439975.1XP_047295931.1  band 4.1-like protein 1 isoform X11

  3. XM_047439985.1XP_047295941.1  band 4.1-like protein 1 isoform X18

  4. XM_047439978.1XP_047295934.1  band 4.1-like protein 1 isoform X13

    Related
    ENSP00000363061.2, ENST00000373950.6
  5. XM_047439980.1XP_047295936.1  band 4.1-like protein 1 isoform X14

  6. XM_047439998.1XP_047295954.1  band 4.1-like protein 1 isoform X31

  7. XM_047440000.1XP_047295956.1  band 4.1-like protein 1 isoform X32

  8. XM_047440006.1XP_047295962.1  band 4.1-like protein 1 isoform X36

  9. XM_047439983.1XP_047295939.1  band 4.1-like protein 1 isoform X16

  10. XM_047439966.1XP_047295922.1  band 4.1-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A0C4DH22
    Related
    ENSP00000363052.1, ENST00000373941.5
  11. XM_047439969.1XP_047295925.1  band 4.1-like protein 1 isoform X7

  12. XM_047439994.1XP_047295950.1  band 4.1-like protein 1 isoform X27

  13. XM_047439968.1XP_047295924.1  band 4.1-like protein 1 isoform X3

  14. XM_047439976.1XP_047295932.1  band 4.1-like protein 1 isoform X12

  15. XM_011528681.2XP_011526983.1  band 4.1-like protein 1 isoform X4

    Conserved Domains (3) summary
    smart00295
    Location:99288
    B41; Band 4.1 homologues
    PRK08691
    Location:396587
    PRK08691; DNA polymerase III subunits gamma and tau; Validated
    cd13184
    Location:283376
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
  16. XM_047439970.1XP_047295926.1  band 4.1-like protein 1 isoform X8

  17. XM_047439990.1XP_047295946.1  band 4.1-like protein 1 isoform X23

  18. XM_047439991.1XP_047295947.1  band 4.1-like protein 1 isoform X24

  19. XM_047439995.1XP_047295951.1  band 4.1-like protein 1 isoform X28

  20. XM_047439967.1XP_047295923.1  band 4.1-like protein 1 isoform X2

  21. XM_017027715.2XP_016883204.1  band 4.1-like protein 1 isoform X5

  22. XM_011528682.2XP_011526984.1  band 4.1-like protein 1 isoform X6

    Conserved Domains (7) summary
    smart00295
    Location:99288
    B41; Band 4.1 homologues
    cd13184
    Location:283376
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam00373
    Location:183288
    FERM_M; FERM central domain
    pfam04382
    Location:481511
    SAB; SAB domain
    pfam05902
    Location:777854
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:385425
    FA; FERM adjacent (FA)
    pfam09379
    Location:101164
    FERM_N; FERM N-terminal domain
  23. XM_047439971.1XP_047295927.1  band 4.1-like protein 1 isoform X9

  24. XM_047439992.1XP_047295948.1  band 4.1-like protein 1 isoform X25

  25. XM_047439993.1XP_047295949.1  band 4.1-like protein 1 isoform X26

  26. XM_047439996.1XP_047295952.1  band 4.1-like protein 1 isoform X29

  27. XM_047439973.1XP_047295929.1  band 4.1-like protein 1 isoform X10

  28. XM_047439974.1XP_047295930.1  band 4.1-like protein 1 isoform X11

  29. XM_047439984.1XP_047295940.1  band 4.1-like protein 1 isoform X18

  30. XM_047439997.1XP_047295953.1  band 4.1-like protein 1 isoform X30

  31. XM_047440004.1XP_047295960.1  band 4.1-like protein 1 isoform X35

  32. XM_047439977.1XP_047295933.1  band 4.1-like protein 1 isoform X13

  33. XM_047439988.1XP_047295944.1  band 4.1-like protein 1 isoform X21

  34. XM_047439979.1XP_047295935.1  band 4.1-like protein 1 isoform X14

  35. XM_047439989.1XP_047295945.1  band 4.1-like protein 1 isoform X22

  36. XM_047439986.1XP_047295942.1  band 4.1-like protein 1 isoform X19

  37. XM_047439999.1XP_047295955.1  band 4.1-like protein 1 isoform X31

  38. XM_047440008.1XP_047295964.1  band 4.1-like protein 1 isoform X38

  39. XM_047440002.1XP_047295958.1  band 4.1-like protein 1 isoform X32

  40. XM_047440009.1XP_047295965.1  band 4.1-like protein 1 isoform X39

  41. XM_047440005.1XP_047295961.1  band 4.1-like protein 1 isoform X36

  42. XM_047439981.1XP_047295937.1  band 4.1-like protein 1 isoform X15

  43. XM_047439982.1XP_047295938.1  band 4.1-like protein 1 isoform X16

  44. XM_047439987.1XP_047295943.1  band 4.1-like protein 1 isoform X20

  45. XM_047440001.1XP_047295957.1  band 4.1-like protein 1 isoform X33

  46. XM_047440003.1XP_047295959.1  band 4.1-like protein 1 isoform X34

  47. XM_047440007.1XP_047295963.1  band 4.1-like protein 1 isoform X37

  48. XM_011528685.1XP_011526987.1  band 4.1-like protein 1 isoform X17

    See identical proteins and their annotated locations for XP_011526987.1

    Conserved Domains (5) summary
    smart00295
    Location:99288
    B41; Band 4.1 homologues
    cd13184
    Location:283376
    FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
    pfam04382
    Location:494524
    SAB; SAB domain
    pfam05902
    Location:654731
    4_1_CTD; 4.1 protein C-terminal domain (CTD)
    pfam08736
    Location:385426
    FA; FERM adjacent (FA)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    37812399..37953498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)