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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 28-Oct-2024

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; AllianceGenome:HGNC:4867
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
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Genomic context

See HERC1 in Genome Data Viewer
Location:
15q22.31
Exon count:
81
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63608618..63833948, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61415858..61641183, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63900817..64126147, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9539 Neighboring gene Sharpr-MPRA regulatory region 15501 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:63851884-63852437 Neighboring gene ubiquitin specific peptidase 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:63882664-63883863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:63892143-63892860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:63893123-63893940 Neighboring gene USP3 antisense RNA 1 Neighboring gene F-box and leucine rich repeat protein 22 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:63958187-63958357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64006451-64006952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64006953-64007452 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:64014173-64014349 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64057331-64058088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64058904-64059404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6522 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:64107893-64108654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64114122-64114622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64125303-64126168 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64126169-64127032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64171093-64171988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9543 Neighboring gene Sharpr-MPRA regulatory region 4498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64186155-64186656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9546 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 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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in corpus callosum development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection development IEA
Inferred from Electronic Annotation
more info
 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in 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_016878191.1
XP_016878194.1
XP_047289166.1
XP_047289167.1
XP_047289169.1
XP_047289170.1
XP_047289171.1
XP_047289172.1
XP_047289173.1
XP_047289174.1
XP_047289175.1
XP_047289176.1
XP_047289177.1
XP_047289178.1
XP_047289179.1
XP_047289180.1
XP_047289181.1
XP_047289182.1
XP_047289183.1
XP_047289184.1
XP_047289185.1
XP_047289186.1
XP_047289188.1
XP_047289189.1
XP_047289190.1
XP_047289191.1
XP_047289192.1
XP_047289193.1
XP_047289194.1
XP_047289195.1
XP_047289196.1
XP_047289197.1
XP_047289199.1
XP_047289200.1
XP_047289201.1
XP_047289202.1
XP_047289203.1
XP_047289204.1
XP_047289205.1
XP_047289206.1
XP_047289207.1
XP_047289208.1
XP_047289210.1
XP_047289211.1
XP_047289212.1
XP_047289213.1
XP_047289214.1
XP_047289215.1
XP_047289216.1
XP_054235031.1
XP_054235032.1
XP_054235033.1
XP_054235034.1
XP_054235035.1
XP_054235036.1
XP_054235037.1
XP_054235038.1
XP_054235039.1
XP_054235040.1
XP_054235041.1
XP_054235042.1
XP_054235043.1
XP_054235044.1
XP_054235045.1
XP_054235046.1
XP_054235047.1
XP_054235048.1
XP_054235049.1
XP_054235050.1
XP_054235051.1
XP_054235052.1
XP_054235053.1
XP_054235054.1
XP_054235055.1
XP_054235056.1
XP_054235057.1
XP_054235058.1
XP_054235059.1
XP_054235060.1
XP_054235061.1
XP_054235062.1
XP_054235063.1
XP_054235064.1
XP_054235065.1
XP_054235066.1
XP_054235067.1
XP_054235068.1
XP_054235069.1
XP_054235070.1
XP_054235071.1
XP_054235072.1
XP_054235073.1
XP_054235074.1
XP_054235075.1
XP_054235076.1
XP_054235077.1
XP_054235078.1
XP_054235079.1

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_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, Q8IW65
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047433260.1XP_047289216.1  probable E3 ubiquitin-protein ligase HERC1 isoform X34

  2. XM_047433247.1XP_047289203.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  3. XM_047433234.1XP_047289190.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  4. XM_047433252.1XP_047289208.1  probable E3 ubiquitin-protein ligase HERC1 isoform X27

  5. XM_047433258.1XP_047289214.1  probable E3 ubiquitin-protein ligase HERC1 isoform X32

  6. XM_047433257.1XP_047289213.1  probable E3 ubiquitin-protein ligase HERC1 isoform X31

  7. XM_047433241.1XP_047289197.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  8. XM_047433255.1XP_047289211.1  probable E3 ubiquitin-protein ligase HERC1 isoform X29

  9. XM_047433238.1XP_047289194.1  probable E3 ubiquitin-protein ligase HERC1 isoform X20

  10. XM_017022705.2XP_016878194.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  11. XM_047433233.1XP_047289189.1  probable E3 ubiquitin-protein ligase HERC1 isoform X18

  12. XM_047433227.1XP_047289183.1  probable E3 ubiquitin-protein ligase HERC1 isoform X15

  13. XM_047433251.1XP_047289207.1  probable E3 ubiquitin-protein ligase HERC1 isoform X26

  14. XM_017022702.2XP_016878191.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  15. XM_047433250.1XP_047289206.1  probable E3 ubiquitin-protein ligase HERC1 isoform X25

  16. XM_047433246.1XP_047289202.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  17. XM_047433256.1XP_047289212.1  probable E3 ubiquitin-protein ligase HERC1 isoform X30

  18. XM_047433235.1XP_047289191.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  19. XM_047433259.1XP_047289215.1  probable E3 ubiquitin-protein ligase HERC1 isoform X33

  20. XM_047433243.1XP_047289199.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  21. XM_047433229.1XP_047289185.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  22. XM_047433222.1XP_047289178.1  probable E3 ubiquitin-protein ligase HERC1 isoform X11

  23. XM_047433254.1XP_047289210.1  probable E3 ubiquitin-protein ligase HERC1 isoform X28

  24. XM_047433226.1XP_047289182.1  probable E3 ubiquitin-protein ligase HERC1 isoform X15

  25. XM_047433218.1XP_047289174.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  26. XM_047433240.1XP_047289196.1  probable E3 ubiquitin-protein ligase HERC1 isoform X22

  27. XM_047433220.1XP_047289176.1  probable E3 ubiquitin-protein ligase HERC1 isoform X9

  28. XM_047433239.1XP_047289195.1  probable E3 ubiquitin-protein ligase HERC1 isoform X21

  29. XM_047433216.1XP_047289172.1  probable E3 ubiquitin-protein ligase HERC1 isoform X6

  30. XM_047433228.1XP_047289184.1  probable E3 ubiquitin-protein ligase HERC1 isoform X16

  31. XM_047433224.1XP_047289180.1  probable E3 ubiquitin-protein ligase HERC1 isoform X13

  32. XM_047433214.1XP_047289170.1  probable E3 ubiquitin-protein ligase HERC1 isoform X4

  33. XM_047433225.1XP_047289181.1  probable E3 ubiquitin-protein ligase HERC1 isoform X14

  34. XM_047433215.1XP_047289171.1  probable E3 ubiquitin-protein ligase HERC1 isoform X5

  35. XM_047433223.1XP_047289179.1  probable E3 ubiquitin-protein ligase HERC1 isoform X12

  36. XM_047433213.1XP_047289169.1  probable E3 ubiquitin-protein ligase HERC1 isoform X3

  37. XM_047433221.1XP_047289177.1  probable E3 ubiquitin-protein ligase HERC1 isoform X10

  38. XM_047433211.1XP_047289167.1  probable E3 ubiquitin-protein ligase HERC1 isoform X2

  39. XM_047433217.1XP_047289173.1  probable E3 ubiquitin-protein ligase HERC1 isoform X7

  40. XM_047433210.1XP_047289166.1  probable E3 ubiquitin-protein ligase HERC1 isoform X1

  41. XM_047433248.1XP_047289204.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  42. XM_047433236.1XP_047289192.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  43. XM_047433244.1XP_047289200.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  44. XM_047433230.1XP_047289186.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  45. XM_047433219.1XP_047289175.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  46. XM_047433237.1XP_047289193.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  47. XM_047433249.1XP_047289205.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  48. XM_047433245.1XP_047289201.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  49. XM_047433232.1XP_047289188.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    61415858..61641183 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379067.1XP_054235042.1  probable E3 ubiquitin-protein ligase HERC1 isoform X11

  2. XM_054379103.1XP_054235078.1  probable E3 ubiquitin-protein ligase HERC1 isoform X33

  3. XM_054379087.1XP_054235062.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  4. XM_054379075.1XP_054235050.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  5. XM_054379095.1XP_054235070.1  probable E3 ubiquitin-protein ligase HERC1 isoform X25

  6. XM_054379090.1XP_054235065.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  7. XM_054379100.1XP_054235075.1  probable E3 ubiquitin-protein ligase HERC1 isoform X30

  8. XM_054379080.1XP_054235055.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  9. XM_054379098.1XP_054235073.1  probable E3 ubiquitin-protein ligase HERC1 isoform X28

  10. XM_054379072.1XP_054235047.1  probable E3 ubiquitin-protein ligase HERC1 isoform X15

  11. XM_054379063.1XP_054235038.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  12. XM_054379085.1XP_054235060.1  probable E3 ubiquitin-protein ligase HERC1 isoform X22

  13. XM_054379065.1XP_054235040.1  probable E3 ubiquitin-protein ligase HERC1 isoform X9

  14. XM_054379084.1XP_054235059.1  probable E3 ubiquitin-protein ligase HERC1 isoform X21

  15. XM_054379060.1XP_054235035.1  probable E3 ubiquitin-protein ligase HERC1 isoform X6

  16. XM_054379073.1XP_054235048.1  probable E3 ubiquitin-protein ligase HERC1 isoform X16

  17. XM_054379069.1XP_054235044.1  probable E3 ubiquitin-protein ligase HERC1 isoform X13

  18. XM_054379058.1XP_054235033.1  probable E3 ubiquitin-protein ligase HERC1 isoform X4

  19. XM_054379070.1XP_054235045.1  probable E3 ubiquitin-protein ligase HERC1 isoform X14

  20. XM_054379059.1XP_054235034.1  probable E3 ubiquitin-protein ligase HERC1 isoform X5

  21. XM_054379068.1XP_054235043.1  probable E3 ubiquitin-protein ligase HERC1 isoform X12

  22. XM_054379057.1XP_054235032.1  probable E3 ubiquitin-protein ligase HERC1 isoform X3

  23. XM_054379066.1XP_054235041.1  probable E3 ubiquitin-protein ligase HERC1 isoform X10

  24. XM_054379061.1XP_054235036.1  probable E3 ubiquitin-protein ligase HERC1 isoform X7

  25. XM_054379056.1XP_054235031.1  probable E3 ubiquitin-protein ligase HERC1 isoform X1

  26. XM_054379104.1XP_054235079.1  probable E3 ubiquitin-protein ligase HERC1 isoform X34

  27. XM_054379091.1XP_054235066.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  28. XM_054379079.1XP_054235054.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  29. XM_054379097.1XP_054235072.1  probable E3 ubiquitin-protein ligase HERC1 isoform X27

  30. XM_054379102.1XP_054235077.1  probable E3 ubiquitin-protein ligase HERC1 isoform X32

  31. XM_054379101.1XP_054235076.1  probable E3 ubiquitin-protein ligase HERC1 isoform X31

  32. XM_054379086.1XP_054235061.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  33. XM_054379099.1XP_054235074.1  probable E3 ubiquitin-protein ligase HERC1 isoform X29

  34. XM_054379083.1XP_054235058.1  probable E3 ubiquitin-protein ligase HERC1 isoform X20

  35. XM_054379074.1XP_054235049.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  36. XM_054379078.1XP_054235053.1  probable E3 ubiquitin-protein ligase HERC1 isoform X18

  37. XM_054379071.1XP_054235046.1  probable E3 ubiquitin-protein ligase HERC1 isoform X15

  38. XM_054379096.1XP_054235071.1  probable E3 ubiquitin-protein ligase HERC1 isoform X26

  39. XM_054379062.1XP_054235037.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  40. XM_054379094.1XP_054235069.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  41. XM_054379092.1XP_054235067.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  42. XM_054379081.1XP_054235056.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  43. XM_054379088.1XP_054235063.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  44. XM_054379076.1XP_054235051.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17

  45. XM_054379064.1XP_054235039.1  probable E3 ubiquitin-protein ligase HERC1 isoform X8

  46. XM_054379082.1XP_054235057.1  probable E3 ubiquitin-protein ligase HERC1 isoform X19

  47. XM_054379093.1XP_054235068.1  probable E3 ubiquitin-protein ligase HERC1 isoform X24

  48. XM_054379089.1XP_054235064.1  probable E3 ubiquitin-protein ligase HERC1 isoform X23

  49. XM_054379077.1XP_054235052.1  probable E3 ubiquitin-protein ligase HERC1 isoform X17