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Protein

Zinc finger protein 335

Gene

ZNF335

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters. Enhances ligand-dependent transcriptional activation by nuclear hormone receptors. Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST. Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation.3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri245 – 26824C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri465 – 48723C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri495 – 51723C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri523 – 54523C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri562 – 58423C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri590 – 61223C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri621 – 64323C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri649 – 67224C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri678 – 70124C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1019 – 104123C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1047 – 106923C2H2-type 11PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1075 – 109723C2H2-type 12PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1103 – 112624C2H2-type 13PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • brain development Source: UniProtKB
  • brain morphogenesis Source: Ensembl
  • cerebral cortex neuron differentiation Source: Ensembl
  • histone H3-K4 trimethylation Source: UniProtKB
  • in utero embryonic development Source: Ensembl
  • neuron projection morphogenesis Source: UniProtKB
  • positive regulation of lymphocyte proliferation Source: UniProtKB
  • positive regulation of neuroblast proliferation Source: UniProtKB
  • positive regulation of neurogenesis Source: UniProtKB
  • regulation of gene expression, epigenetic Source: UniProtKB
  • regulation of histone H3-K4 methylation Source: Ensembl
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 335
Alternative name(s):
NRC-interacting factor 1
Short name:
NIF-1
Gene namesi
Name:ZNF335
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15807. ZNF335.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 10, primary, autosomal recessive (MCPH10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation.
See also OMIM:615095
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1111 – 11111R → H in MCPH10; hypomorphic mutation; may cause altered transcript but some full-length protein is still formed. 1 Publication
Corresponds to variant rs397514642 [ dbSNP | Ensembl ].
VAR_069469

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

MalaCardsiZNF335.
MIMi615095. phenotype.
Orphaneti329228. Microcephalic primordial dwarfism due to ZNF335 deficiency.
PharmGKBiPA38041.

Polymorphism and mutation databases

BioMutaiZNF335.
DMDMi20141037.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13421342Zinc finger protein 335PRO_0000047538Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei976 – 9761PhosphoserineBy similarity
Modified residuei992 – 9921PhosphoserineCombined sources
Modified residuei1007 – 10071PhosphoserineCombined sources
Modified residuei1153 – 11531PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H4Z2.
MaxQBiQ9H4Z2.
PaxDbiQ9H4Z2.
PeptideAtlasiQ9H4Z2.
PRIDEiQ9H4Z2.

PTM databases

iPTMnetiQ9H4Z2.
PhosphoSiteiQ9H4Z2.

Expressioni

Tissue specificityi

Ubiquitously expressed.2 Publications

Developmental stagei

Widely expressed in fetal tissues including fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000198026.
CleanExiHS_ZNF335.
GenevisibleiQ9H4Z2. HS.

Interactioni

Subunit structurei

Interacts with NCOA6; may enhance ligand-dependent transcriptional activation by nuclear hormone receptors. Interacts with CNOT6. Interacts with RQCD1; the interaction is direct. Interacts with members of histone H3'Lys4'(H3K4) methyltransferase complexes ASCL2, CXXC1, KMT2A/MLL1, RBBP5, SETD1A and WDR5. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity.4 Publications

Protein-protein interaction databases

BioGridi121994. 14 interactions.
IntActiQ9H4Z2. 2 interactions.
STRINGi9606.ENSP00000325326.

Structurei

3D structure databases

ProteinModelPortaliQ9H4Z2.
SMRiQ9H4Z2. Positions 443-701, 1015-1126.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1178 – 1330153Gln-richAdd
BLAST

Sequence similaritiesi

Contains 13 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri245 – 26824C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri465 – 48723C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri495 – 51723C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri523 – 54523C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri562 – 58423C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri590 – 61223C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri621 – 64323C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri649 – 67224C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri678 – 70124C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1019 – 104123C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1047 – 106923C2H2-type 11PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1075 – 109723C2H2-type 12PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1103 – 112624C2H2-type 13PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00390000012269.
HOGENOMiHOG000231007.
HOVERGENiHBG073927.
InParanoidiQ9H4Z2.
OMAiTHIQYEQ.
OrthoDBiEOG091G00HT.
PhylomeDBiQ9H4Z2.
TreeFamiTF332472.

Family and domain databases

Gene3Di3.30.160.60. 9 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 13 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 13 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H4Z2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEENEVESSS DAAPGPGRPE EPSESGLGVG TSEAVSADSS DAAAAPGQAE
60 70 80 90 100
ADDSGVGQSS DRGSRSQEEV SESSSSADPL PNSYLPDSSS VSHGPVAGVT
110 120 130 140 150
GGPPALVHSS ALPDPNMLVS DCTASSSDLG SAIDKIIEST IGPDLIQNCI
160 170 180 190 200
TVTSAEDGGA ETTRYLILQG PDDGAPMTSP MSSSTLAHSL AAIEALADGP
210 220 230 240 250
TSTSTCLEAQ GGPSSPVQLP PASGAEEPDL QSLEAMMEVV VVQQFKCKMC
260 270 280 290 300
QYRSSTKATL LRHMRERHFR PVAAAAAAAG KKGRLRKWST STKSQEEEGP
310 320 330 340 350
EEEDDDDIVD AGAIDDLEED SDYNPAEDEP RGRQLRLQRP TPSTPRPRRR
360 370 380 390 400
PGRPRKLPRL EISDLPDGVE GEPLVSSQSG QSPPEPQDPE APSSSGPGHL
410 420 430 440 450
VAMGKVSRTP VEAGVSQSDA ENAAPSCPDE HDTLPRRRGR PSRRFLGKKY
460 470 480 490 500
RKYYYKSPKP LLRPFLCRIC GSRFLSHEDL RFHVNSHEAG DPQLFKCLQC
510 520 530 540 550
SYRSRRWSSL KEHMFNHVGS KPYKCDECSY TSVYRKDVIR HAAVHSRDRK
560 570 580 590 600
KRPDPTPKLS SFPCPVCGRV YPMQKRLTQH MKTHSTEKPH MCDKCGKSFK
610 620 630 640 650
KRYTFKMHLL THIQAVANRR FKCEFCEFVC EDKKALLNHQ LSHVSDKPFK
660 670 680 690 700
CSFCPYRTFR EDFLLSHVAV KHTGAKPFAC EYCHFSTRHK KNLRLHVRCR
710 720 730 740 750
HASSFEEWGR RHPEEPPSRR RPFFSLQQIE ELKQQHSAAP GPPPSSPGPP
760 770 780 790 800
EIPPEATTFQ SSEAPSLLCS DTLGGATIIY QQGAEESTAM ATQTALDLLL
810 820 830 840 850
NMSAQRELGG TALQVAVVKS EDVEAGLASP GGQPSPEGAT PQVVTLHVAE
860 870 880 890 900
PGGGAAAESQ LGPPDLPQIT LAPGPFGGTG YSVITAPPME EGTSAPGTPY
910 920 930 940 950
SEEPAGEAAQ AVVVSDTLKE AGTHYIMATD GTQLHHIELT ADGSISFPSP
960 970 980 990 1000
DALASGAKWP LLQCGGLPRD GPEPPSPAKT HCVGDSQSSA SSPPATSKAL
1010 1020 1030 1040 1050
GLAVPPSPPS AATAASKKFS CKICAEAFPG RAEMESHKRA HAGPGAFKCP
1060 1070 1080 1090 1100
DCPFSARQWP EVRAHMAQHS SLRPHQCSQC SFASKNKKDL RRHMLTHTKE
1110 1120 1130 1140 1150
KPFACHLCGQ RFNRNGHLKF HIQRLHSPDG RKSGTPTARA PTQTPTQTII
1160 1170 1180 1190 1200
LNSDDETLAT LHTALQSSHG VLGPERLQQA LSQEHIIVAQ EQTVTNQEEA
1210 1220 1230 1240 1250
AYIQEITTAD GQTVQHLVTS DNQVQYIISQ DGVQHLLPQE YVVVPEGHHI
1260 1270 1280 1290 1300
QVQEGQITHI QYEQGAPFLQ ESQIQYVPVS PGQQLVTQAQ LEAAAHSAVT
1310 1320 1330 1340
AVADAAMAQA QGLFGTDETV PEHIQQLQHQ GIEYDVITLA DD
Length:1,342
Mass (Da):144,893
Last modified:March 1, 2001 - v1
Checksum:i6D230DEE0B3AE670
GO
Isoform 2 (identifier: Q9H4Z2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.
     156-173: EDGGAETTRYLILQGPDD → MATSSMPESERNVATKAS

Note: No experimental confirmation available.
Show »
Length:1,187
Mass (Da):129,615
Checksum:i28690A43DE88A4AF
GO

Sequence cautioni

The sequence BAB15379 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti227 – 2271E → G in BAG59529 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651R → C.
Corresponds to variant rs6130982 [ dbSNP | Ensembl ].
VAR_047560
Natural varianti101 – 1011G → S.
Corresponds to variant rs6094231 [ dbSNP | Ensembl ].
VAR_047561
Natural varianti294 – 2941S → T.1 Publication
Corresponds to variant rs6032606 [ dbSNP | Ensembl ].
VAR_024211
Natural varianti603 – 6031Y → H.
Corresponds to variant rs16990961 [ dbSNP | Ensembl ].
VAR_047562
Natural varianti1111 – 11111R → H in MCPH10; hypomorphic mutation; may cause altered transcript but some full-length protein is still formed. 1 Publication
Corresponds to variant rs397514642 [ dbSNP | Ensembl ].
VAR_069469

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 155155Missing in isoform 2. 1 PublicationVSP_035791Add
BLAST
Alternative sequencei156 – 17318EDGGA…QGPDD → MATSSMPESERNVATKAS in isoform 2. 1 PublicationVSP_035792Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395833 mRNA. Translation: AAN09900.1.
AK026157 mRNA. Translation: BAB15379.1. Different initiation.
AK296989 mRNA. Translation: BAG59529.1.
AL162458 Genomic DNA. Translation: CAC10457.1.
CCDSiCCDS13389.1. [Q9H4Z2-1]
RefSeqiNP_071378.1. NM_022095.3. [Q9H4Z2-1]
UniGeneiHs.174193.

Genome annotation databases

EnsembliENST00000322927; ENSP00000325326; ENSG00000198026. [Q9H4Z2-1]
GeneIDi63925.
KEGGihsa:63925.
UCSCiuc002xqw.4. human. [Q9H4Z2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395833 mRNA. Translation: AAN09900.1.
AK026157 mRNA. Translation: BAB15379.1. Different initiation.
AK296989 mRNA. Translation: BAG59529.1.
AL162458 Genomic DNA. Translation: CAC10457.1.
CCDSiCCDS13389.1. [Q9H4Z2-1]
RefSeqiNP_071378.1. NM_022095.3. [Q9H4Z2-1]
UniGeneiHs.174193.

3D structure databases

ProteinModelPortaliQ9H4Z2.
SMRiQ9H4Z2. Positions 443-701, 1015-1126.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121994. 14 interactions.
IntActiQ9H4Z2. 2 interactions.
STRINGi9606.ENSP00000325326.

PTM databases

iPTMnetiQ9H4Z2.
PhosphoSiteiQ9H4Z2.

Polymorphism and mutation databases

BioMutaiZNF335.
DMDMi20141037.

Proteomic databases

EPDiQ9H4Z2.
MaxQBiQ9H4Z2.
PaxDbiQ9H4Z2.
PeptideAtlasiQ9H4Z2.
PRIDEiQ9H4Z2.

Protocols and materials databases

DNASUi63925.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322927; ENSP00000325326; ENSG00000198026. [Q9H4Z2-1]
GeneIDi63925.
KEGGihsa:63925.
UCSCiuc002xqw.4. human. [Q9H4Z2-1]

Organism-specific databases

CTDi63925.
GeneCardsiZNF335.
HGNCiHGNC:15807. ZNF335.
MalaCardsiZNF335.
MIMi610827. gene.
615095. phenotype.
neXtProtiNX_Q9H4Z2.
Orphaneti329228. Microcephalic primordial dwarfism due to ZNF335 deficiency.
PharmGKBiPA38041.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00390000012269.
HOGENOMiHOG000231007.
HOVERGENiHBG073927.
InParanoidiQ9H4Z2.
OMAiTHIQYEQ.
OrthoDBiEOG091G00HT.
PhylomeDBiQ9H4Z2.
TreeFamiTF332472.

Enzyme and pathway databases

ReactomeiR-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Miscellaneous databases

ChiTaRSiZNF335. human.
GenomeRNAii63925.
PROiQ9H4Z2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198026.
CleanExiHS_ZNF335.
GenevisibleiQ9H4Z2. HS.

Family and domain databases

Gene3Di3.30.160.60. 9 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 13 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 13 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN335_HUMAN
AccessioniPrimary (citable) accession number: Q9H4Z2
Secondary accession number(s): B4DLG7, Q548D0, Q9H684
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: September 7, 2016
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.