ZNF195 zinc finger protein 195 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF195provided by HGNC
Official Full Name: zinc finger protein 195provided by HGNC
Primary source: HGNC:HGNC:12986
See related: Ensembl:ENSG00000005801 MIM:602187; AllianceGenome:HGNC:12986
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: HRF1; ZNFP104
Summary: This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in brain (RPKM 4.9), thyroid (RPKM 4.7) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 11p15.4

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (3357927..3379146, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (3403249..3424539, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (3379157..3400376, complement)

Chromosome 11 - NC_000011.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
Title: DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.

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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

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D11S4731 (e-PCR)
- UniSTS:473687

WI-22146 (e-PCR)
- UniSTS:47703

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-32486 (e-PCR)
- UniSTS:42674

NoName (e-PCR)
- UniSTS:486333

G06188 (e-PCR)
- UniSTS:4065

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger protein 195

Names: hypoxia-regulated factor-1; krueppel family zinc finger protein (znfp104)

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.

Genomic

NG_032109.1 RefSeqGene

Range

5077..26296

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130519.3 → NP_001123991.1 zinc finger protein 195 isoform 2

See identical proteins and their annotated locations for NP_001123991.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AC123788, AL833722, BC121029

Consensus CDS

CCDS44521.1

UniProtKB/Swiss-Prot

O14628

Related

ENSP00000005082.9, ENST00000005082.13

Conserved Domains (3) summary

smart00349
Location:4 → 64

KRAB; krueppel associated box

COG5048
Location:202 → 606

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:501 → 521

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_001130520.3 → NP_001123992.1 zinc finger protein 195 isoform 1

See identical proteins and their annotated locations for NP_001123992.1

Status: REVIEWED

Description

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

Source sequence(s)

AC123788, AK290099, AL833722

Consensus CDS

CCDS44522.1

UniProtKB/Swiss-Prot

A8K234, B3KTK2, B4DEL0, C9JLY9, L7MNK2, O14628, Q0VAJ6, Q658N8, Q6ZNA9

Related

ENSP00000382511.4, ENST00000399602.9

Conserved Domains (5) summary

smart00349
Location:4 → 64

KRAB; krueppel associated box

COG5048
Location:225 → 629

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:524 → 544

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:4 → 43

KRAB; KRAB box

pfam13465
Location:592 → 617

zf-H2C2_2; Zinc-finger double domain
NM_001242841.2 → NP_001229770.1 zinc finger protein 195 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in its 5' UTR, uses an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC123788, AK293679, AL833722

Consensus CDS

CCDS55737.1

UniProtKB/Swiss-Prot

O14628

Related

ENSP00000435828.1, ENST00000526601.5

Conserved Domains (5) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

COG5048
Location:206 → 610

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:505 → 525

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:8 → 47

KRAB; KRAB box

pfam13465
Location:573 → 598

zf-H2C2_2; Zinc-finger double domain
NM_001242842.2 → NP_001229771.1 zinc finger protein 195 isoform 5

See identical proteins and their annotated locations for NP_001229771.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in its 5' UTR, uses an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC123788, AK308068, AL833722

UniProtKB/Swiss-Prot

O14628

Conserved Domains (5) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

COG5048
Location:180 → 584

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:479 → 499

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:8 → 47

KRAB; KRAB box

pfam13465
Location:547 → 572

zf-H2C2_2; Zinc-finger double domain
NM_001242843.2 → NP_001229772.1 zinc finger protein 195 isoform 6

See identical proteins and their annotated locations for NP_001229772.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in its 5' UTR, uses an alternate start codon, and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1. Both variants 6 and 12 encode isoform 6.

Source sequence(s)

AC123788, AL833722, CX867141

Consensus CDS

CCDS55736.1

UniProtKB/Swiss-Prot

O14628

Related

ENSP00000387998.2, ENST00000429541.6

Conserved Domains (5) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

COG5048
Location:157 → 561

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:456 → 476

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:8 → 47

KRAB; KRAB box

pfam13465
Location:524 → 549

zf-H2C2_2; Zinc-finger double domain
NM_001256823.2 → NP_001243752.1 zinc finger protein 195 isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in its 5' UTR, uses an alternate start codon, and lacks two alternate exons but includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (7) has distinct N- and C-termini and is shorter than isoform 1.

Source sequence(s)

AC123788, AL833722, BM462194

Consensus CDS

CCDS58111.1

UniProtKB/TrEMBL

E9PIN4, E9PPF8

Related

ENSP00000414353.2, ENST00000438262.6

Conserved Domains (2) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

pfam01352
Location:8 → 47

KRAB; KRAB box
NM_001256824.2 → NP_001243753.1 zinc finger protein 195 isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in its 5' UTR, uses an alternate start codon, uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (8) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC123788, AL833722, DA713258

UniProtKB/Swiss-Prot

O14628

Conserved Domains (5) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

COG5048
Location:188 → 592

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:487 → 507

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:8 → 47

KRAB; KRAB box

pfam13465
Location:555 → 580

zf-H2C2_2; Zinc-finger double domain
NM_001256825.2 → NP_001243754.1 zinc finger protein 195 isoform 6

See identical proteins and their annotated locations for NP_001243754.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) differs in its 5' UTR, uses an alternate start codon, and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1. Both variants 6 and 12 encode isoform 6.

Source sequence(s)

AC123788, AL833722, DA618142

Consensus CDS

CCDS55736.1

UniProtKB/Swiss-Prot

O14628

Related

ENSP00000344483.7, ENST00000343338.11

Conserved Domains (5) summary

smart00349
Location:8 → 68

KRAB; krueppel associated box

COG5048
Location:157 → 561

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:456 → 476

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:8 → 47

KRAB; KRAB box

pfam13465
Location:524 → 549

zf-H2C2_2; Zinc-finger double domain
NM_007152.5 → NP_009083.2 zinc finger protein 195 isoform 3

See identical proteins and their annotated locations for NP_009083.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.

Source sequence(s)

AC123788, AL833722

Consensus CDS

CCDS41604.1

UniProtKB/Swiss-Prot

O14628

Related

ENSP00000346613.6, ENST00000354599.10

Conserved Domains (5) summary

smart00349
Location:4 → 64

KRAB; krueppel associated box

COG5048
Location:320 → 497

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:452 → 472

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam01352
Location:4 → 43

KRAB; KRAB box

pfam13465
Location:520 → 545

zf-H2C2_2; Zinc-finger double domain

RNA

NR_040083.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) includes two additional exons in the 5' region, and lacks two exons in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC123788, AK131296, AL833722
NR_046381.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) includes an additional exon in both the 5' and 3' regions, but lacks a different exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 4, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC123788, AL833722, DB294374
NR_046382.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (10) includes an additional exon in the 5' region, and lacks two exons in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC123788, AL833722, DA170927, DA984929