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ZNF638 zinc finger protein 638 [ Homo sapiens (human) ]

Gene ID: 27332, updated on 11-Sep-2019

Summary

Official Symbol
ZNF638provided by HGNC
Official Full Name
zinc finger protein 638provided by HGNC
Primary source
HGNC:HGNC:17894
See related
Ensembl:ENSG00000075292 MIM:614349
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
ZFML; NP220; Zfp638
Summary
The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 14.1), thyroid (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See ZNF638 in Genome Data Viewer
Location:
2p13.3-p13.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (71331755..71435061)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71503729..71662191)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein interacting protein 2B Neighboring gene uncharacterized LOC105374797 Neighboring gene Sharpr-MPRA regulatory region 7735 Neighboring gene RNA, U6 small nuclear 105, pseudogene Neighboring gene VISTA enhancer hs2170 Neighboring gene dysferlin Neighboring gene VISTA enhancer hs1479

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study in Han Chinese identifies three novel loci for human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26130, MGC90196, DKFZp686P1231

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
double-stranded DNA binding TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
zinc finger protein 638
Names
CTCL tumor antigen se33-1
CTCL-associated antigen se33-1
NP220 nuclear protein
cutaneous T-cell lymphoma-associated antigen se33-1
nuclear protein 220
zinc finger matrin-like protein

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.

mRNA and Protein(s)

  1. NM_001014972.2NP_001014972.1  zinc finger protein 638 isoform 1

    See identical proteins and their annotated locations for NP_001014972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AI357871, BC143728, BM152722, BP348645, DB130984
    Consensus CDS
    CCDS1917.1
    UniProtKB/Swiss-Prot
    Q14966
    Conserved Domains (4) summary
    smart00451
    Location:19271959
    ZnF_U1; U1-like zinc finger
    cd12436
    Location:10091082
    RRM1_2_MATR3_like; RNA recognition motif 1 and 2 in the matrin 3 family of nuclear proteins
    cd12716
    Location:676751
    RRM1_2_NP220; RNA recognition motif 1 and 2 in vertebrate nuclear protein 220 (NP220)
    pfam07382
    Location:741847
    HC2; Histone H1-like nucleoprotein HC2
  2. NM_001252612.1NP_001239541.1  zinc finger protein 638 isoform 1

    See identical proteins and their annotated locations for NP_001239541.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AI357871, BC024000, BC143728, BM152722, BP348645, CR749322, DB094964
    Consensus CDS
    CCDS1917.1
    UniProtKB/Swiss-Prot
    Q14966
    Related
    ENSP00000386433.1, ENST00000409544.5
    Conserved Domains (4) summary
    smart00451
    Location:19271959
    ZnF_U1; U1-like zinc finger
    cd12436
    Location:10091082
    RRM1_2_MATR3_like; RNA recognition motif 1 and 2 in the matrin 3 family of nuclear proteins
    cd12716
    Location:676751
    RRM1_2_NP220; RNA recognition motif 1 and 2 in vertebrate nuclear protein 220 (NP220)
    pfam07382
    Location:741847
    HC2; Histone H1-like nucleoprotein HC2
  3. NM_001252613.1NP_001239542.1  zinc finger protein 638 isoform 2

    See identical proteins and their annotated locations for NP_001239542.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI357871, AK291198, BC010355, BC083513, BM152722, BP348645, DB130984
    UniProtKB/Swiss-Prot
    Q14966
    UniProtKB/TrEMBL
    A8K583
    Conserved Domains (2) summary
    cd12436
    Location:10091082
    RRM1_2_MATR3_like; RNA recognition motif 1 and 2 in the matrin 3 family of nuclear proteins
    cd12716
    Location:676751
    RRM1_2_NP220; RNA recognition motif 1 and 2 in vertebrate nuclear protein 220 (NP220)
  4. NM_014497.5NP_055312.2  zinc finger protein 638 isoform 1

    See identical proteins and their annotated locations for NP_055312.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same isoform.
    Source sequence(s)
    AI357871, BC143728, BP348645, D83032, DB130984
    Consensus CDS
    CCDS1917.1
    UniProtKB/Swiss-Prot
    Q14966
    Related
    ENSP00000264447.4, ENST00000264447.9
    Conserved Domains (4) summary
    smart00451
    Location:19271959
    ZnF_U1; U1-like zinc finger
    cd12436
    Location:10091082
    RRM1_2_MATR3_like; RNA recognition motif 1 and 2 in the matrin 3 family of nuclear proteins
    cd12716
    Location:676751
    RRM1_2_NP220; RNA recognition motif 1 and 2 in vertebrate nuclear protein 220 (NP220)
    pfam07382
    Location:741847
    HC2; Histone H1-like nucleoprotein HC2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    71331755..71435061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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