FAM170A family with sequence similarity 170 member A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM170Aprovided by HGNC
Official Full Name: family with sequence similarity 170 member Aprovided by HGNC
Primary source: HGNC:HGNC:27963
See related: Ensembl:ENSG00000164334 MIM:618401; AllianceGenome:HGNC:27963
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: ZNFD
Summary: Predicted to enable DNA binding activity and metal ion binding activity. Involved in positive regulation of DNA-templated transcription and transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis (RPKM 8.0) See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (119629558..119635822)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (120150414..120156678)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (118965253..118971517)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate that ZNFD is probably a new type of C(2)H(2) zinc finger protein that may activate AP1 transcriptional activities.
Title: Isolation and characterization of a novel zinc finger gene, ZNFD, activating AP1(PMA) transcriptional activities.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in fertilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein FAM170A

Names: Znf domain containing protein; zinc finger domain-containing protein; zinc finger protein ZNFD

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)

NM_001163991.2 → NP_001157463.1 protein FAM170A isoform 2

See identical proteins and their annotated locations for NP_001157463.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment near the N-terminus, compared to isoform 1.

Source sequence(s)

AC010409, AY692447

Consensus CDS

CCDS54889.1

UniProtKB/TrEMBL

D6RIE9

Related

ENSP00000368873.3, ENST00000379555.7
NM_001367956.1 → NP_001354885.1 protein FAM170A isoform 3

Status: VALIDATED

Source sequence(s)

AC010409, BC128243

Consensus CDS

CCDS93765.1

UniProtKB/Swiss-Prot

A1A519, Q66LM8, Q7Z4V2, Q8IW94

UniProtKB/TrEMBL

D6RIE9

Related

ENSP00000511971.1, ENST00000695508.1
NM_182761.4 → NP_877438.2 protein FAM170A isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC010409, AY692447, BC040622

Consensus CDS

CCDS43353.1

UniProtKB/TrEMBL

D6RIE9

Related

ENSP00000334285.6, ENST00000335286.10