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

Gene ID: 27332, updated on 23-Nov-2021

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
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Genomic context

See ZNF638 in Genome Data Viewer
Location:
2p13.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (71331782..71435061)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71558912..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

Associated conditions

Description Tests
Genome-wide association study in Han Chinese identifies three novel loci for human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Pathways from PubChem

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
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables double-stranded DNA binding TAS
Traceable Author Statement
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_001014972.3NP_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, BP348645, DB130984
    Consensus CDS
    CCDS1917.1
    UniProtKB/Swiss-Prot
    Q14966
    Conserved Domains (4) summary
    PTZ00121
    Location:12931907
    PTZ00121; MAEBL; Provisional
    smart00451
    Location:19271959
    ZnF_U1; U1-like zinc finger
    cd12716
    Location:905979
    RRM1_2_NP220; RNA recognition motif 1 (RRM1) and 2 (RRM2) found in vertebrate nuclear protein 220 (NP220)
    cl17169
    Location:676751
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. NM_001252612.2NP_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, BP348645, CR749322, DB094964
    Consensus CDS
    CCDS1917.1
    UniProtKB/Swiss-Prot
    Q14966
    Related
    ENSP00000386433.1, ENST00000409544.5
    Conserved Domains (4) summary
    PTZ00121
    Location:12931907
    PTZ00121; MAEBL; Provisional
    smart00451
    Location:19271959
    ZnF_U1; U1-like zinc finger
    cd12716
    Location:905979
    RRM1_2_NP220; RNA recognition motif 1 (RRM1) and 2 (RRM2) found in vertebrate nuclear protein 220 (NP220)
    cl17169
    Location:676751
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. NM_001252613.2NP_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, 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
    PTZ00121
    Location:12931907
    PTZ00121; MAEBL; Provisional
    smart00451
    Location:19271959
    ZnF_U1; U1-like zinc finger
    cd12716
    Location:905979
    RRM1_2_NP220; RNA recognition motif 1 (RRM1) and 2 (RRM2) found in vertebrate nuclear protein 220 (NP220)
    cl17169
    Location:676751
    RRM_SF; RNA recognition motif (RRM) superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    71331782..71435061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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