ZNF385A zinc finger protein 385A [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF385Aprovided by HGNC
Official Full Name: zinc finger protein 385Aprovided by HGNC
Primary source: HGNC:HGNC:17521
See related: Ensembl:ENSG00000161642 MIM:609124; AllianceGenome:HGNC:17521
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: HZF; RZF; ZFP385; ZNF385
Summary: Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]
Expression: Broad expression in skin (RPKM 29.1), fat (RPKM 16.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54369136..54391298, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (54335713..54357883, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (54762920..54785082, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma.
Title: ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma.
Brain gene expression of PADI2, ZNF385A, PSD2, and A2ML1 and DNA methylation dysregulations are implicated in the alteration of brain tissue properties associated with late-life cognitive decline above and beyond the influence of common neuropathologic conditions.
Title: Association Between Brain Gene Expression, DNA Methylation, and Alteration of Ex Vivo Magnetic Resonance Imaging Transverse Relaxation in Late-Life Cognitive Decline.
Results suggest that RZF is a shuttling regulatory protein expressed in photoreceptors of the human retina that may be involved in mRNA or protein regulation of photoreceptor-specific genes and therefore have role in retinal disease mechanisms.
Title: RZF, a zinc-finger protein in the photoreceptors of human retina.

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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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Markers

MARC_17697-17698:1031753921:1 (e-PCR)
- UniSTS:268380

RH158 (e-PCR)
- UniSTS:9346

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA 3'-UTR binding	ISS Inferred from Sequence or Structural Similarity more info
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in hemostasis	IEA Inferred from Electronic Annotation more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in mRNA localization resulting in post-transcriptional regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA localization resulting in post-transcriptional regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in megakaryocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet alpha granule organization	IEA Inferred from Electronic Annotation more info
involved_in platelet formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytoplasmic translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cytoplasmic translation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger protein 385A

Names: hematopoietic zinc finger protein; retinal zinc finger protein; zinc finger protein 385

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_001130967.3 → NP_001124439.1 zinc finger protein 385A isoform a

See identical proteins and their annotated locations for NP_001124439.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL117462, BC029752, BM546460

Consensus CDS

CCDS44911.1

UniProtKB/Swiss-Prot

B2RDN5, B4DKH2, F1T0F1, J3KNS3, Q5VH53, Q96PM9, Q9H7R6, Q9UFU3

Related

ENSP00000338927.5, ENST00000338010.9

Conserved Domains (2) summary

sd00020
Location:203 → 225

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:262 → 285

zf-met; Zinc-finger of C2H2 type
NM_001130968.3 → NP_001124440.1 zinc finger protein 385A isoform b

See identical proteins and their annotated locations for NP_001124440.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK024404, AK296564, AL117462, BC029752, BM546460

Consensus CDS

CCDS44910.1

Related

ENSP00000293385.9, ENST00000352268.10

Conserved Domains (2) summary

sd00020
Location:182 → 204

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:181 → 204

zf-met; Zinc-finger of C2H2 type
NM_001290001.2 → NP_001276930.1 zinc finger protein 385A isoform d

See identical proteins and their annotated locations for NP_001276930.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' and 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (d) is shorter, compared to isoform a.

Source sequence(s)

AC079313, AF304052, AK296564, BP305142

Consensus CDS

CCDS76563.1

UniProtKB/Swiss-Prot

Q96PM9

Related

ENSP00000447162.1, ENST00000551771.5

Conserved Domains (2) summary

sd00020
Location:162 → 184

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:160 → 184

zf-met; Zinc-finger of C2H2 type
NM_001290002.2 → NP_001276931.1 zinc finger protein 385A isoform c

See identical proteins and their annotated locations for NP_001276931.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding reigon, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 5, and 6 encode the same protein (isoform c).

Source sequence(s)

AL117462, AY461717, DB169664

Consensus CDS

CCDS8879.1

UniProtKB/Swiss-Prot

Q96PM9

Related

ENSP00000446913.1, ENST00000546970.5

Conserved Domains (2) summary

sd00020
Location:183 → 205

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:242 → 265

zf-met; Zinc-finger of C2H2 type
NM_001290004.2 → NP_001276933.1 zinc finger protein 385A isoform c

See identical proteins and their annotated locations for NP_001276933.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 5, and 6 encode the same protein (isoform c).

Source sequence(s)

AB593085, BM476090, DB169664

Consensus CDS

CCDS8879.1

UniProtKB/Swiss-Prot

Q96PM9

Conserved Domains (2) summary

sd00020
Location:183 → 205

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:242 → 265

zf-met; Zinc-finger of C2H2 type
NM_015481.3 → NP_056296.1 zinc finger protein 385A isoform c

See identical proteins and their annotated locations for NP_056296.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 5, and 6 encode the same protein (isoform c).

Source sequence(s)

AC079313, AF304052, BP305142

Consensus CDS

CCDS8879.1

UniProtKB/Swiss-Prot

Q96PM9

Related

ENSP00000377849.2, ENST00000394313.7

Conserved Domains (2) summary

sd00020
Location:183 → 205

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:242 → 265

zf-met; Zinc-finger of C2H2 type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

54369136..54391298 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538170.2 → XP_011536472.1 zinc finger protein 385A isoform X4

Conserved Domains (2) summary

sd00020
Location:166 → 188

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:225 → 248

zf-met; Zinc-finger of C2H2 type
XM_011538169.3 → XP_011536471.1 zinc finger protein 385A isoform X2

Conserved Domains (2) summary

sd00020
Location:199 → 221

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:258 → 281

zf-met; Zinc-finger of C2H2 type
XM_011538171.4 → XP_011536473.1 zinc finger protein 385A isoform X5

Conserved Domains (2) summary

sd00020
Location:215 → 237

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:214 → 237

zf-met; Zinc-finger of C2H2 type
XM_011538168.3 → XP_011536470.1 zinc finger protein 385A isoform X1

Conserved Domains (2) summary

smart00451
Location:294 → 319

ZnF_U1; U1-like zinc finger

sd00020
Location:236 → 258

ZF_C2H2; C2H2 Zn finger [structural motif]
XM_047428697.1 → XP_047284653.1 zinc finger protein 385A isoform X6
XM_047428694.1 → XP_047284650.1 zinc finger protein 385A isoform X3
XM_024448936.2 → XP_024304704.1 zinc finger protein 385A isoform X8

Conserved Domains (2) summary

smart00451
Location:123 → 148

ZnF_U1; U1-like zinc finger

sd00020
Location:125 → 147

ZF_C2H2; C2H2 Zn finger [structural motif]
XM_047428698.1 → XP_047284654.1 zinc finger protein 385A isoform X7
XM_005268783.5 → XP_005268840.1 zinc finger protein 385A isoform X3

See identical proteins and their annotated locations for XP_005268840.1

UniProtKB/Swiss-Prot

Q96PM9

Related

ENSP00000449161.1, ENST00000551109.5

Conserved Domains (2) summary

sd00020
Location:183 → 205

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:242 → 265

zf-met; Zinc-finger of C2H2 type
XM_024448935.2 → XP_024304703.1 zinc finger protein 385A isoform X7

Conserved Domains (2) summary

sd00020
Location:162 → 184

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12874
Location:160 → 184

zf-met; Zinc-finger of C2H2 type
XM_047428696.1 → XP_047284652.1 zinc finger protein 385A isoform X3
XM_047428695.1 → XP_047284651.1 zinc finger protein 385A isoform X3