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Protein

Zinc finger protein 41

Gene

ZNF41

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

Functioni

May be involved in transcriptional regulation.

Caution

Although ZNF41 has been reported to be involved in X-linked mental retardation (PubMed:14628291), its pathological role is questionable (PubMed:23871722).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri313 – 335C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri341 – 364C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST24
Zinc fingeri369 – 391C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri397 – 419C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri425 – 447C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri453 – 475C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri481 – 503C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri509 – 531C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri537 – 559C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri565 – 587C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri593 – 615C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri621 – 643C2H2-type 12PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri649 – 671C2H2-type 13PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri677 – 699C2H2-type 14PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri705 – 727C2H2-type 15PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri733 – 755C2H2-type 16PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri761 – 783C2H2-type 17PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri789 – 811C2H2-type 18PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-212436 Generic Transcription Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 41
Gene namesi
Name:ZNF41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000147124.12
HGNCiHGNC:13107 ZNF41
MIMi314995 gene
neXtProtiNX_P51814

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving ZNF41 has been found in a patient with severe mental retardation. Translocation t(X;7)(p11.3;q11.21).1 Publication

Organism-specific databases

DisGeNETi7592
MalaCardsiZNF41
OpenTargetsiENSG00000147124
Orphaneti777 X-linked non-syndromic intellectual disability
PharmGKBiPA37682

Polymorphism and mutation databases

BioMutaiZNF41
DMDMi20141930

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000473741 – 821Zinc finger protein 41Add BLAST821

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki120Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki647Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiP51814
MaxQBiP51814
PeptideAtlasiP51814
PRIDEiP51814

PTM databases

iPTMnetiP51814
PhosphoSitePlusiP51814

Expressioni

Tissue specificityi

Expressed in the heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000147124
ExpressionAtlasiP51814 baseline and differential
GenevisibleiP51814 HS

Organism-specific databases

HPAiHPA069102

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113418, 4 interactors
IntActiP51814, 7 interactors
MINTiP51814

Structurei

3D structure databases

ProteinModelPortaliP51814
SMRiP51814
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini69 – 140KRABPROSITE-ProRule annotationAdd BLAST72

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri313 – 335C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri341 – 364C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST24
Zinc fingeri369 – 391C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri397 – 419C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri425 – 447C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri453 – 475C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri481 – 503C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri509 – 531C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri537 – 559C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri565 – 587C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri593 – 615C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri621 – 643C2H2-type 12PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri649 – 671C2H2-type 13PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri677 – 699C2H2-type 14PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri705 – 727C2H2-type 15PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri733 – 755C2H2-type 16PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri761 – 783C2H2-type 17PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri789 – 811C2H2-type 18PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

GeneTreeiENSGT00900000140826
HOVERGENiHBG018163
InParanoidiP51814
KOiK09228
OMAiYACTECQ
OrthoDBiEOG091G02KC
PhylomeDBiP51814
TreeFamiTF350810

Family and domain databases

CDDicd07765 KRAB_A-box, 1 hit
InterProiView protein in InterPro
IPR001909 KRAB
IPR036051 KRAB_dom_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF01352 KRAB, 1 hit
SMARTiView protein in SMART
SM00349 KRAB, 1 hit
SM00355 ZnF_C2H2, 17 hits
SUPFAMiSSF109640 SSF109640, 1 hit
SSF57667 SSF57667, 10 hits
PROSITEiView protein in PROSITE
PS50805 KRAB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 17 hits
PS50157 ZINC_FINGER_C2H2_2, 18 hits

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P51814-1) [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
MAANGDSPPW SPALAAEGRG SSCEVRRERT PEARIHSVKR YPDLSPGPKG
60 70 80 90 100
RSSADHAALN SIVSLQASVS FEDVTVDFSK EEWQHLDPAQ RRLYWDVTLE
110 120 130 140 150
NYSHLLSVGY QIPKSEAAFK LEQGEGPWML EGEAPHQSCS GEAIGKMQQQ
160 170 180 190 200
GIPGGIFFHC ERFDQPIGED SLCSILEELW QDNDQLEQRQ ENQNNLLSHV
210 220 230 240 250
KVLIKERGYE HKNIEKIIHV TTKLVPSIKR LHNCDTILKH TLNSHNHNRN
260 270 280 290 300
SATKNLGKIF GNGNNFPHSP SSTKNENAKT GANSCEHDHY EKHLSHKQAP
310 320 330 340 350
THHQKIHPEE KLYVCTECVM GFTQKSHLFE HQRIHAGEKS RECDKSNKVF
360 370 380 390 400
PQKPQVDVHP SVYTGEKPYL CTQCGKVFTL KSNLITHQKI HTGQKPYKCS
410 420 430 440 450
ECGKAFFQRS DLFRHLRIHT GEKPYECSEC GKGFSQNSDL SIHQKTHTGE
460 470 480 490 500
KHYECNECGK AFTRKSALRM HQRIHTGEKP YVCADCGKAF IQKSHFNTHQ
510 520 530 540 550
RIHTGEKPYE CSDCGKSFTK KSQLHVHQRI HTGEKPYICT ECGKVFTHRT
560 570 580 590 600
NLTTHQKTHT GEKPYMCAEC GKAFTDQSNL IKHQKTHTGE KPYKCNGCGK
610 620 630 640 650
AFIWKSRLKI HQKSHIGERH YECKDCGKAF IQKSTLSVHQ RIHTGEKPYV
660 670 680 690 700
CPECGKAFIQ KSHFIAHHRI HTGEKPYECS DCGKCFTKKS QLRVHQKIHT
710 720 730 740 750
GEKPNICAEC GKAFTDRSNL ITHQKIHTRE KPYECGDCGK TFTWKSRLNI
760 770 780 790 800
HQKSHTGERH YECSKCGKAF IQKATLSMHQ IIHTGKKPYA CTECQKAFTD
810 820
RSNLIKHQKM HSGEKRYKAS D
Length:821
Mass (Da):93,728
Last modified:January 23, 2002 - v2
Checksum:iF44B7808C9A8AF13
GO
Isoform 2 (identifier: P51814-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MAANGDSPPW...RSSADHAALN → MGTLPHGPRPWLQRDVAAHV

Show »
Length:781
Mass (Da):89,598
Checksum:iB0531CFE87C20260
GO
Isoform 3 (identifier: P51814-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: MAANGDSPPWSPALAAEGRGSSCEVRRERTPEARIHSVKRYPDLSPGPKGRS → MGTLPHGPRPWLQRDVAAHV

Show »
Length:789
Mass (Da):90,377
Checksum:i076E49C3D94E3255
GO
Isoform 4 (identifier: P51814-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: Missing.

Show »
Length:693
Mass (Da):79,538
Checksum:iD41671F68B91656B
GO
Isoform 5 (identifier: P51814-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-60: Missing.

Show »
Length:813
Mass (Da):92,948
Checksum:i14FF48F2EADA1687
GO
Isoform 6 (identifier: P51814-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-66: Missing.

Show »
Length:779
Mass (Da):89,093
Checksum:iB0EF06F2B69F97F1
GO
Isoform 7 (identifier: P51814-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MAANGDSPPW...RSSADHAALN → MGTLPHGPRPWLQRDVAAHV
     141-176: Missing.

Show »
Length:745
Mass (Da):85,693
Checksum:i3A0B309355565CA4
GO
Isoform 8 (identifier: P51814-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-66: Missing.
     141-176: Missing.

Show »
Length:743
Mass (Da):85,188
Checksum:i0BC6B01F1914D57E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti111Q → R in CAB53039 (PubMed:10449920).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021785153P → L Rare variant found in patients with X-linked mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104894955Ensembl.1
Natural variantiVAR_021786167I → R1 PublicationCorresponds to variant dbSNP:rs17147624Ensembl.1
Natural variantiVAR_021787357D → E1 PublicationCorresponds to variant dbSNP:rs2498170Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0068871 – 128Missing in isoform 4. 1 PublicationAdd BLAST128
Alternative sequenceiVSP_0068831 – 60MAANG…HAALN → MGTLPHGPRPWLQRDVAAHV in isoform 7 and isoform 2. CuratedAdd BLAST60
Alternative sequenceiVSP_0068841 – 52MAANG…PKGRS → MGTLPHGPRPWLQRDVAAHV in isoform 3. CuratedAdd BLAST52
Alternative sequenceiVSP_00688525 – 66Missing in isoform 6 and isoform 8. 2 PublicationsAdd BLAST42
Alternative sequenceiVSP_00688653 – 60Missing in isoform 5. Curated8
Alternative sequenceiVSP_006888141 – 176Missing in isoform 7 and isoform 8. CuratedAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X60155 mRNA Translation: CAB51740.1
AJ010017 mRNA Translation: CAB53035.1
AJ010018 mRNA Translation: CAB53036.1
AJ010019 mRNA Translation: CAB53037.1
AJ010020 mRNA Translation: CAB53038.1
AJ010021 mRNA Translation: CAB53039.1
AJ010022 mRNA Translation: CAB53040.1
AJ010023 mRNA Translation: CAB53041.1
AK290021 mRNA Translation: BAF82710.1
AK294858 mRNA Translation: BAG57962.1
AL590223 Genomic DNA No translation available.
AL590283 Genomic DNA No translation available.
CH471164 Genomic DNA Translation: EAW59303.1
BC015023 mRNA Translation: AAH15023.1
M92443 Genomic DNA Translation: AAA61312.1
CCDSiCCDS14279.1 [P51814-6]
PIRiA54661
RefSeqiNP_001311068.1, NM_001324139.1 [P51814-4]
NP_001311069.1, NM_001324140.1 [P51814-6]
NP_001311070.1, NM_001324141.1 [P51814-4]
NP_001311071.1, NM_001324142.1 [P51814-2]
NP_001311072.1, NM_001324143.1 [P51814-4]
NP_001311073.1, NM_001324144.1 [P51814-6]
NP_001311074.1, NM_001324145.1 [P51814-4]
NP_001311076.1, NM_001324147.1 [P51814-6]
NP_001311077.1, NM_001324148.1 [P51814-2]
NP_001311078.1, NM_001324149.1 [P51814-4]
NP_001311079.1, NM_001324150.1 [P51814-6]
NP_001311080.1, NM_001324151.1 [P51814-3]
NP_001311081.1, NM_001324152.1 [P51814-4]
NP_001311082.1, NM_001324153.1 [P51814-3]
NP_001311083.1, NM_001324154.1 [P51814-5]
NP_001311084.1, NM_001324155.1 [P51814-1]
NP_001311085.1, NM_001324156.1 [P51814-7]
NP_001311086.1, NM_001324157.1 [P51814-8]
NP_009061.1, NM_007130.3 [P51814-6]
NP_700359.1, NM_153380.3 [P51814-6]
XP_006724613.1, XM_006724550.3 [P51814-5]
XP_006724618.1, XM_006724555.3 [P51814-3]
XP_016885299.1, XM_017029810.1 [P51814-5]
XP_016885300.1, XM_017029811.1 [P51814-5]
XP_016885301.1, XM_017029812.1 [P51814-5]
XP_016885302.1, XM_017029813.1 [P51814-5]
XP_016885303.1, XM_017029814.1 [P51814-5]
XP_016885304.1, XM_017029815.1 [P51814-5]
XP_016885305.1, XM_017029816.1 [P51814-3]
XP_016885306.1, XM_017029817.1 [P51814-6]
UniGeneiHs.496074
Hs.737678

Genome annotation databases

EnsembliENST00000313116; ENSP00000315173; ENSG00000147124 [P51814-6]
ENST00000377065; ENSP00000366265; ENSG00000147124 [P51814-6]
GeneIDi7592
KEGGihsa:7592
UCSCiuc004dhx.5 human [P51814-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiZNF41_HUMAN
AccessioniPrimary (citable) accession number: P51814
Secondary accession number(s): A8K1V6
, B4DH01, Q96LE8, Q9UMC4, Q9UMV5, Q9UMV6, Q9UMV7, Q9UMV8, Q9UMV9, Q9UMW0, Q9UMW1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2002
Last modified: May 23, 2018
This is version 185 of the entry and version 2 of the sequence. See 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 X
    Human chromosome X: 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

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