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ZNF483 zinc finger protein 483 [ Homo sapiens (human) ]

Gene ID: 158399, updated on 13-Mar-2020

Summary

Official Symbol
ZNF483provided by HGNC
Official Full Name
zinc finger protein 483provided by HGNC
Primary source
HGNC:HGNC:23384
See related
Ensembl:ENSG00000173258
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZSCAN48; ZKSCAN16
Expression
Biased expression in brain (RPKM 6.4), adrenal (RPKM 2.6) and 13 other tissues See more
Orthologs

Genomic context

See ZNF483 in Genome Data Viewer
Location:
9q31.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (111525159..111578117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114287439..114340124)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily K member 2 Neighboring gene Ecm29 proteasome adaptor and scaffold Neighboring gene RNA, 5S ribosomal pseudogene 294 Neighboring gene prostaglandin reductase 1 Neighboring gene leucine rich repeat containing 37 member A5, pseudogene Neighboring gene uncharacterized LOC107987116

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Genome-wide association study of age at menarche in African-American women.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
zinc finger protein 483
Names
zinc finger protein HIT-10
zinc finger protein with KRAB and SCAN domains 16

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_001007169.5NP_001007170.1  zinc finger protein 483 isoform b

    See identical proteins and their annotated locations for NP_001007170.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL135787, AL159168
    Consensus CDS
    CCDS35105.1
    UniProtKB/Swiss-Prot
    Q8TF39
    Related
    ENSP00000350871.4, ENST00000358151.8
    Conserved Domains (3) summary
    smart00349
    Location:171229
    KRAB; krueppel associated box
    pfam01352
    Location:171209
    KRAB; KRAB box
    pfam02023
    Location:49136
    SCAN; SCAN domain
  2. NM_133464.5NP_597721.2  zinc finger protein 483 isoform a

    See identical proteins and their annotated locations for NP_597721.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL159168
    Consensus CDS
    CCDS35106.1
    UniProtKB/Swiss-Prot
    Q8TF39
    Related
    ENSP00000311679.5, ENST00000309235.6
    Conserved Domains (8) summary
    smart00431
    Location:49152
    SCAN; leucine rich region
    smart00349
    Location:171229
    KRAB; krueppel associated box
    COG5048
    Location:437735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171209
    KRAB; KRAB box
    pfam02023
    Location:49136
    SCAN; SCAN domain
    pfam13465
    Location:650674
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    111525159..111578117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014339.1XP_016869828.1  zinc finger protein 483 isoform X2

    UniProtKB/TrEMBL
    Q6P088
    Related
    ENSP00000438048.1, ENST00000355824.7
    Conserved Domains (2) summary
    smart00349
    Location:171229
    KRAB; krueppel associated box
    pfam02023
    Location:49136
    SCAN; SCAN domain
  2. XM_017014337.1XP_016869826.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q8TF39
    Conserved Domains (8) summary
    smart00431
    Location:49152
    SCAN; leucine rich region
    smart00349
    Location:171229
    KRAB; krueppel associated box
    COG5048
    Location:437735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171209
    KRAB; KRAB box
    pfam02023
    Location:49136
    SCAN; SCAN domain
    pfam13465
    Location:650674
    zf-H2C2_2; Zinc-finger double domain
  3. XM_017014338.1XP_016869827.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q8TF39
    Conserved Domains (8) summary
    smart00431
    Location:49152
    SCAN; leucine rich region
    smart00349
    Location:171229
    KRAB; krueppel associated box
    COG5048
    Location:437735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171209
    KRAB; KRAB box
    pfam02023
    Location:49136
    SCAN; SCAN domain
    pfam13465
    Location:650674
    zf-H2C2_2; Zinc-finger double domain
  4. XM_011518300.2XP_011516602.1  zinc finger protein 483 isoform X1

    See identical proteins and their annotated locations for XP_011516602.1

    UniProtKB/Swiss-Prot
    Q8TF39
    Conserved Domains (8) summary
    smart00431
    Location:49152
    SCAN; leucine rich region
    smart00349
    Location:171229
    KRAB; krueppel associated box
    COG5048
    Location:437735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171209
    KRAB; KRAB box
    pfam02023
    Location:49136
    SCAN; SCAN domain
    pfam13465
    Location:650674
    zf-H2C2_2; Zinc-finger double domain
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