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HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 [ Homo sapiens (human) ]

Gene ID: 8925, updated on 9-Feb-2020

Summary

Official Symbol
HERC1provided by HGNC
Official Full Name
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1provided by HGNC
Primary source
HGNC:HGNC:4867
See related
Ensembl:ENSG00000103657 MIM:605109
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
p532; p619; MDFPMR
Summary
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in brain (RPKM 7.7), ovary (RPKM 7.5) and 25 other tissues See more
Orthologs

Genomic context

See HERC1 in Genome Data Viewer
Location:
15q22.31
Exon count:
80
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (63608618..63833948, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63900817..64126148, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 3 Neighboring gene USP3 antisense RNA 1 Neighboring gene F-box and leucine rich repeat protein 22 Neighboring gene microRNA 422a Neighboring gene uncharacterized LOC101928988 Neighboring gene death associated protein kinase 2

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
Macrocephaly, dysmorphic facies, and psychomotor retardation
MedGen: C4310766 OMIM: 617011 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neuron projection development IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
probable E3 ubiquitin-protein ligase HERC1
Names
HECT domain and RCC1-like domain-containing protein 1
HECT-type E3 ubiquitin transferase HERC1
guanine nucleotide exchange factor p532
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
NP_003913.3
XP_016878188.1
XP_016878189.1
XP_016878190.1
XP_016878191.1
XP_016878192.1
XP_016878193.1
XP_016878194.1
XP_016878195.1

NCBI Reference Sequences (RefSeq)

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_046958.1 RefSeqGene

    Range
    5002..230332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003922.4NP_003913.3  probable E3 ubiquitin-protein ligase HERC1

    See identical proteins and their annotated locations for NP_003913.3

    Status: REVIEWED

    Source sequence(s)
    AK226162, BQ216911, DB117652, U50078
    Consensus CDS
    CCDS45277.1
    UniProtKB/Swiss-Prot
    Q15751
    UniProtKB/TrEMBL
    A0A024R5W0
    Related
    ENSP00000390158.2, ENST00000443617.7
    Conserved Domains (9) summary
    smart00119
    Location:45044837
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    COG2319
    Location:33943778
    WD40; WD40 repeat [General function prediction only]
    cd00078
    Location:44734841
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    cd14401
    Location:27532796
    UBA_HERC1; UBA domain found in probable E3 ubiquitin-protein ligase HERC1 and similar proteins
    pfam00415
    Location:43094358
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:667696
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    sd00039
    Location:34323475
    7WD40; WD40 repeat [structural motif]
    cd12881
    Location:20322189
    SPRY_HERC1; SPRY domain in HERC1
    cl02567
    Location:34243775
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    63608618..63833948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022705.2XP_016878194.1  probable E3 ubiquitin-protein ligase HERC1 isoform X7

  2. XM_017022702.2XP_016878191.1  probable E3 ubiquitin-protein ligase HERC1 isoform X4

  3. XM_017022704.2XP_016878193.1  probable E3 ubiquitin-protein ligase HERC1 isoform X6

  4. XM_017022703.2XP_016878192.1  probable E3 ubiquitin-protein ligase HERC1 isoform X5

  5. XM_017022701.2XP_016878190.1  probable E3 ubiquitin-protein ligase HERC1 isoform X3

  6. XM_017022699.2XP_016878188.1  probable E3 ubiquitin-protein ligase HERC1 isoform X1

  7. XM_017022700.2XP_016878189.1  probable E3 ubiquitin-protein ligase HERC1 isoform X2

  8. XM_017022706.2XP_016878195.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

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