H4C13 (H4 clustered histone 13) - Rat Genome Database

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Gene: H4C13 (H4 clustered histone 13) Homo sapiens
Analyze
Symbol: H4C13
Name: H4 clustered histone 13
RGD ID: 1318739
HGNC Page HGNC:4791
Description: A structural constituent of chromatin. Involved in negative regulation of megakaryocyte differentiation and nucleosome assembly. Located in CENP-A containing nucleosome and nucleus. Part of nucleosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H4 histone family, member K; H4-16; H4.k; H4/k; H4C1; H4C11; H4C12; H4C14; H4C15; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9; H4FK; HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4; histone 1, H4l; histone cluster 1 H4 family member l; histone cluster 1, H4l; histone H4
RGD Orthologs
Mouse
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38627,873,148 - 27,873,534 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl627,873,148 - 27,873,534 (-)EnsemblGRCh38hg38GRCh38
GRCh37627,840,926 - 27,841,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36627,948,905 - 27,949,268 (-)NCBINCBI36Build 36hg18NCBI36
Build 34627,948,904 - 27,949,268NCBI
Celera629,446,961 - 29,447,324 (-)NCBICelera
Cytogenetic Map6p22.1NCBI
HuRef627,648,610 - 27,648,973 (-)NCBIHuRef
CHM1_1627,843,102 - 27,843,465 (-)NCBICHM1_1
T2T-CHM13v2.0627,742,819 - 27,743,205 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3035717   PMID:9031620   PMID:9439656   PMID:9540062   PMID:9566873   PMID:10220385   PMID:11080476   PMID:11689053   PMID:12408966   PMID:12477932   PMID:14585971   PMID:14657027  
PMID:14718166   PMID:15161933   PMID:15670829   PMID:15933069   PMID:16415788   PMID:16917504   PMID:17207965   PMID:17540172   PMID:17675446   PMID:18404153   PMID:18408754   PMID:18474616  
PMID:18571423   PMID:19135898   PMID:19199708   PMID:19410544   PMID:19494831   PMID:19498464   PMID:19710015   PMID:19738201   PMID:19862764   PMID:19946888   PMID:20000738   PMID:20224553  
PMID:20458337   PMID:20498094   PMID:20618440   PMID:20709061   PMID:20739937   PMID:20951943   PMID:21081503   PMID:21085121   PMID:21145461   PMID:21164480   PMID:21478274   PMID:21596426  
PMID:21630459   PMID:21636898   PMID:21743476   PMID:21800051   PMID:21812398   PMID:21873635   PMID:21888893   PMID:21907836   PMID:21983900   PMID:22145905   PMID:22343720   PMID:22368283  
PMID:22373579   PMID:22493515   PMID:22615379   PMID:22623428   PMID:22658674   PMID:22681889   PMID:23071334   PMID:23075851   PMID:23142979   PMID:23376485   PMID:23377543   PMID:23533145  
PMID:23760478   PMID:23831576   PMID:23979707   PMID:24183680   PMID:24311584   PMID:24360279   PMID:24361270   PMID:24525235   PMID:24596249   PMID:24699735   PMID:24711643   PMID:24726341  
PMID:24981860   PMID:25281266   PMID:25416956   PMID:25556234   PMID:25579814   PMID:25615412   PMID:25619998   PMID:25651062   PMID:25910212   PMID:25963833   PMID:26167883   PMID:26496610  
PMID:26694698   PMID:26725010   PMID:26912361   PMID:27153538   PMID:28514442   PMID:28902428   PMID:28977666   PMID:29676528   PMID:29844126   PMID:30021884   PMID:30554943   PMID:31142837  
PMID:31636387   PMID:31759698   PMID:31790919   PMID:32296183   PMID:32552912   PMID:32814053   PMID:33857403   PMID:33961781   PMID:36180920  


Genomics

Comparative Map Data
H4C13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38627,873,148 - 27,873,534 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl627,873,148 - 27,873,534 (-)EnsemblGRCh38hg38GRCh38
GRCh37627,840,926 - 27,841,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36627,948,905 - 27,949,268 (-)NCBINCBI36Build 36hg18NCBI36
Build 34627,948,904 - 27,949,268NCBI
Celera629,446,961 - 29,447,324 (-)NCBICelera
Cytogenetic Map6p22.1NCBI
HuRef627,648,610 - 27,648,973 (-)NCBIHuRef
CHM1_1627,843,102 - 27,843,465 (-)NCBICHM1_1
T2T-CHM13v2.0627,742,819 - 27,743,205 (-)NCBIT2T-CHM13v2.0
H4c18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391322,015,962 - 22,016,367 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1322,015,937 - 22,016,366 (-)EnsemblGRCm39 Ensembl
GRCm381321,831,792 - 21,832,197 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1321,831,767 - 21,832,196 (-)EnsemblGRCm38mm10GRCm38
MGSCv371321,923,716 - 21,924,027 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361321,839,312 - 21,839,623 (-)NCBIMGSCv36mm8
Celera1322,082,414 - 22,082,725 (+)NCBICelera
Cytogenetic Map13A3.1NCBI
cM Map138.0NCBI

Variants

.
Variants in H4C13
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
NM_003533.2(HIST1H3I):c.33C>T (p.Ser11=) single nucleotide variant Malignant melanoma [RCV000067244] Chr6:27872283 [GRCh38]
Chr6:27840061 [GRCh37]
Chr6:27948040 [NCBI36]
Chr6:6p22.1		 not provided
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3 copy number gain See cases [RCV000133692] Chr6:26280579..28727313 [GRCh38]
Chr6:26280807..28695090 [GRCh37]
Chr6:26388786..28803069 [NCBI36]
Chr6:6p22.2-22.1		 uncertain significance
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3 copy number gain Breast ductal adenocarcinoma [RCV000207227] Chr6:27775494..27861432 [GRCh37]
Chr6:6p22.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1(chr6:27609423-28016099)x3 copy number gain not provided [RCV000745576] Chr6:27609423..28016099 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27645278-27902992)x3 copy number gain not provided [RCV000745579] Chr6:27645278..27902992 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27710165-27885437)x3 copy number gain not provided [RCV000745581] Chr6:27710165..27885437 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27713299-27872832)x3 copy number gain not provided [RCV000745582] Chr6:27713299..27872832 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27715243-27871553)x3 copy number gain not provided [RCV000745583] Chr6:27715243..27871553 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27715243-27877446)x3 copy number gain not provided [RCV000745584] Chr6:27715243..27877446 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27715243-27890631)x3 copy number gain not provided [RCV000745585] Chr6:27715243..27890631 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27715470-27886830)x3 copy number gain not provided [RCV000745586] Chr6:27715470..27886830 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27745142-27870358)x3 copy number gain not provided [RCV000745587] Chr6:27745142..27870358 [GRCh37]
Chr6:6p22.1		 benign
GRCh37/hg19 6p22.1(chr6:27616157-28011557)x3 copy number gain not provided [RCV001005790] Chr6:27616157..28011557 [GRCh37]
Chr6:6p22.1		 likely benign
NM_003546.3(H4C13):c.266A>C (p.Tyr89Ser) single nucleotide variant Inborn genetic diseases [RCV003385493] Chr6:27873245 [GRCh38]
Chr6:27841023 [GRCh37]
Chr6:6p22.1		 uncertain significance
GRCh37/hg19 6p22.1(chr6:27613035-28021256)x3 copy number gain not specified [RCV003986654] Chr6:27613035..28021256 [GRCh37]
Chr6:6p22.1		 uncertain significance
Markers in Region
HIST1H4L_8800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,840,732 - 27,841,254UniSTSGRCh37
Build 36627,948,711 - 27,949,233RGDNCBI36
Celera629,446,767 - 29,447,289RGD
HuRef627,648,416 - 27,648,938UniSTS
RH70929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,840,821 - 27,840,960UniSTSGRCh37
Build 36627,948,800 - 27,948,939RGDNCBI36
Celera629,446,856 - 29,446,995RGD
Cytogenetic Map6p22.1UniSTS
HuRef627,648,505 - 27,648,644UniSTS
GeneMap99-GB4 RH Map6111.37UniSTS
NCBI RH Map6382.6UniSTS
UniSTS:480462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,840,927 - 27,841,289UniSTSGRCh37
Build 36627,948,906 - 27,949,268RGDNCBI36
Celera629,446,962 - 29,447,324RGD
HuRef627,648,611 - 27,648,973UniSTS
UniSTS:483756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,840,940 - 27,841,388UniSTSGRCh37
Build 36627,948,919 - 27,949,367RGDNCBI36
Celera629,446,975 - 29,447,423RGD
HuRef627,648,624 - 27,649,072UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 5
Low 120 217 116 37 220 32 51 57 57 5 171 126 5 48 28
Below cutoff 3051 3929 1935 484 1687 268 4935 2577 4207 141 1297 1660 216 1423 3370

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000618305   ⟹   ENSP00000480960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl627,873,148 - 27,873,534 (-)Ensembl
RefSeq Acc Id: NM_003546   ⟹   NP_003537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38627,873,148 - 27,873,534 (-)NCBI
GRCh37627,840,926 - 27,841,289 (-)RGD
Build 36627,948,905 - 27,949,268 (-)NCBI Archive
Celera629,446,961 - 29,447,324 (-)RGD
HuRef627,648,610 - 27,648,973 (-)RGD
CHM1_1627,843,102 - 27,843,465 (-)NCBI
T2T-CHM13v2.0627,742,819 - 27,743,205 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003537   ⟸   NM_003546
- UniProtKB: Q6FGB8 (UniProtKB/Swiss-Prot),   Q6DRA9 (UniProtKB/Swiss-Prot),   P02305 (UniProtKB/Swiss-Prot),   P02304 (UniProtKB/Swiss-Prot),   A2VCL0 (UniProtKB/Swiss-Prot),   Q6NWP7 (UniProtKB/Swiss-Prot),   P62805 (UniProtKB/Swiss-Prot),   B2R4R0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000480960   ⟸   ENST00000618305
Protein Domains
TATA box binding protein associated factor (TAF)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62805-F1-model_v2 AlphaFold P62805 1-103 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4791 AgrOrtholog
COSMIC H4C13 COSMIC
Ensembl Genes ENSG00000158406 UniProtKB/Swiss-Prot
  ENSG00000197061 UniProtKB/Swiss-Prot
  ENSG00000197238 UniProtKB/Swiss-Prot
  ENSG00000197837 UniProtKB/Swiss-Prot
  ENSG00000270276 UniProtKB/Swiss-Prot
  ENSG00000270882 UniProtKB/Swiss-Prot
  ENSG00000273542 UniProtKB/Swiss-Prot
  ENSG00000274618 UniProtKB/Swiss-Prot
  ENSG00000275126 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276180 UniProtKB/Swiss-Prot
  ENSG00000276966 UniProtKB/Swiss-Prot
  ENSG00000277157 UniProtKB/Swiss-Prot
  ENSG00000278637 UniProtKB/Swiss-Prot
  ENSG00000278705 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000244537.6 UniProtKB/Swiss-Prot
  ENST00000355057.3 UniProtKB/Swiss-Prot
  ENST00000358064.3 UniProtKB/Swiss-Prot
  ENST00000377727.2 UniProtKB/Swiss-Prot
  ENST00000377745.5 UniProtKB/Swiss-Prot
  ENST00000377803.4 UniProtKB/Swiss-Prot
  ENST00000539745.2 UniProtKB/Swiss-Prot
  ENST00000578186.3 UniProtKB/Swiss-Prot
  ENST00000579512.3 UniProtKB/Swiss-Prot
  ENST00000611927.2 UniProtKB/Swiss-Prot
  ENST00000612061.1 UniProtKB/Swiss-Prot
  ENST00000613412.1 UniProtKB/Swiss-Prot
  ENST00000614247.2 UniProtKB/Swiss-Prot
  ENST00000614272.1 UniProtKB/Swiss-Prot
  ENST00000615164.3 UniProtKB/Swiss-Prot
  ENST00000615353.2 UniProtKB/Swiss-Prot
  ENST00000617569.2 UniProtKB/Swiss-Prot
  ENST00000618193.1 UniProtKB/Swiss-Prot
  ENST00000618305 ENTREZGENE
  ENST00000618305.2 UniProtKB/Swiss-Prot
  ENST00000621520.1 UniProtKB/Swiss-Prot
  ENST00000634560.1 UniProtKB/Swiss-Prot
  ENST00000634956.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158406 GTEx
  ENSG00000197061 GTEx
  ENSG00000197238 GTEx
  ENSG00000197837 GTEx
  ENSG00000270276 GTEx
  ENSG00000270882 GTEx
  ENSG00000273542 GTEx
  ENSG00000274618 GTEx
  ENSG00000275126 GTEx
  ENSG00000276180 GTEx
  ENSG00000276966 GTEx
  ENSG00000277157 GTEx
  ENSG00000278637 GTEx
  ENSG00000278705 GTEx
HGNC ID HGNC:4791 ENTREZGENE
Human Proteome Map H4C13 Human Proteome Map
InterPro CENP-T/H4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone_H4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone_H4_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAF_TATA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:121504 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:554313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8294 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8361 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8364 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8365 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8367 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8368 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8368 ENTREZGENE
OMIM 602831 OMIM
PANTHER HISTONE H4 UniProtKB/Swiss-Prot
  HISTONE H4 UniProtKB/Swiss-Prot
  HISTONE H4 UniProtKB/TrEMBL
  HISTONE H4 UniProtKB/TrEMBL
Pfam CENP-T_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS HISTONEH4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HISTONE_H4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2VCL0 ENTREZGENE
  B2R4R0 ENTREZGENE, UniProtKB/TrEMBL
  H4_HUMAN UniProtKB/Swiss-Prot
  P02304 ENTREZGENE
  P02305 ENTREZGENE
  P62805 ENTREZGENE
  Q6DRA9 ENTREZGENE
  Q6FGB8 ENTREZGENE
  Q6NWP7 ENTREZGENE
UniProt Secondary A2VCL0 UniProtKB/Swiss-Prot
  P02304 UniProtKB/Swiss-Prot
  P02305 UniProtKB/Swiss-Prot
  Q6DRA9 UniProtKB/Swiss-Prot
  Q6FGB8 UniProtKB/Swiss-Prot
  Q6NWP7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 H4C13  H4 clustered histone 13  HIST1H4L  histone cluster 1 H4 family member l  Symbol and/or name change 5135510 APPROVED
2016-08-23 HIST1H4L  histone cluster 1 H4 family member l  HIST1H4L  histone cluster 1, H4l  Symbol and/or name change 5135510 APPROVED