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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 7-Jan-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HERC1 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    81
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63608618..63833948, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61415858..61641183, complement)
    105.20220307 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
    • 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_2023_10

    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