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Q32MQ0 (ZN750_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 73. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein 750
Gene names
Name:ZNF750
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length723 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression. Ref.5

Subcellular location

Nucleus Ref.5.

Tissue specificity

Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not in fibroblasts. Ref.4

Induction

During epidermal differentiation: expression is activated by p63/TP63. Ref.5

Involvement in disease

Seborrhea-like dermatitis with psoriasiform elements (SLDP) [MIM:610227]: Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 C2H2-type zinc finger.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 723723Zinc finger protein 750
PRO_0000247070

Regions

Zinc finger25 – 4622C2H2-type; degenerate

Natural variations

Natural variant2351M → V.
Corresponds to variant rs8074277 [ dbSNP | Ensembl ].
VAR_027062
Natural variant2881P → L.
Corresponds to variant rs35653278 [ dbSNP | Ensembl ].
VAR_051502
Natural variant3921Q → R.
Corresponds to variant rs34687659 [ dbSNP | Ensembl ].
VAR_051503

Experimental info

Mutagenesis271C → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-30. Ref.5
Mutagenesis301C → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-27. Ref.5
Mutagenesis391H → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-43. Ref.5
Mutagenesis431H → A: Abolishes the ability to induce epidermal terminal differentiation; when associated with A-39. Ref.5
Sequence conflict1781A → P in BAB14718. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q32MQ0 [UniParc].

Last modified December 6, 2005. Version 1.
Checksum: 890E7DB46DD0F5FF

FASTA72377,361
        10         20         30         40         50         60 
MSLLKERKPK KPHYIPRPPG KPFKYKCFQC PFTCNEKSHL FNHMKYGLCK NSITLVSEQD 

        70         80         90        100        110        120 
RVPKCPKSNS LDPKQTNQPD ATAKPASSKS VANGLSAFDS KLQHSSARED IKENLELQAR 

       130        140        150        160        170        180 
GTHRCLGQKP ALHRASPCKS PAPEAALGAQ PALEGAARPS AFVPVGEHRL KGPDNAEAPE 

       190        200        210        220        230        240 
TLALHNPTAK AVSFHTKSAF HTPGYPWKAG SPFLPPEFPH KISSTKGLGA ISPYMHPTIP 

       250        260        270        280        290        300 
EYPPHFYTEH GLATIYSPYL LAGSSPECDA PLLSVYGTQD PRHFLPHPGP IPKHLAPSPA 

       310        320        330        340        350        360 
TYDHYRFFQQ YPSNLPIPYG FYRPESAFSS YGLRLPPVTG LTRDQSSHLL EEATLVYPAS 

       370        380        390        400        410        420 
SPSRLNPSDP NRKHVEFESP IPEAKDSSKA GQRDTEGSKM SPRAGSAATG SPGRPSPTDF 

       430        440        450        460        470        480 
MQTSQTCEGL YDLSNKAASS ALGRLYPPEQ SLTAFRPVKK STECLPAQAA ETTAESPVSL 

       490        500        510        520        530        540 
NVVNGDPPAP TGSASLVSEA APSSPDDSSG MGPLNLSKKS EINLAATHEP TYQGSPQAET 

       550        560        570        580        590        600 
ASFSELQDLP LNLSVKDPCN TQAPRPAFPG RPRAAEPAAA VPQKTGTEGS EDGPSHPETK 

       610        620        630        640        650        660 
PGSLDGDGAP PTGPGEEAPD ACAVDSSEEQ KQTAAVALCQ LAAYSPRNIR VGDGDAAAPE 

       670        680        690        700        710        720 
PACRQDTPTL SSMESQEAQC DLRPKGQKRT SLRDAGKSQQ GAKKAKLQDT ARVFTLRRRA 


RVS 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Thyroid.
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein."
Birnbaum R.Y., Zvulunov A., Hallel-Halevy D., Cagnano E., Finer G., Ofir R., Geiger D., Silberstein E., Feferman Y., Birk O.S.
Nat. Genet. 38:749-751(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SLDP, TISSUE SPECIFICITY.
[5]"ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation."
Sen G.L., Boxer L.D., Webster D.E., Bussat R.T., Qu K., Zarnegar B.J., Johnston D., Siprashvili Z., Khavari P.A.
Dev. Cell 22:669-677(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, INDUCTION BY TP63, MUTAGENESIS OF CYS-27; CYS-30; HIS-39 AND HIS-43.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK023903 mRNA. Translation: BAB14718.1.
AC068584 Genomic DNA. No translation available.
BC109036 mRNA. Translation: AAI09037.1.
BC109037 mRNA. Translation: AAI09038.1.
CCDSCCDS11819.1.
RefSeqNP_078978.2. NM_024702.2.
UniGeneHs.464391.
Hs.653124.

3D structure databases

ProteinModelPortalQ32MQ0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122866. 1 interaction.
STRING9606.ENSP00000269394.

PTM databases

PhosphoSiteQ32MQ0.

Polymorphism databases

DMDM110825759.

Proteomic databases

PaxDbQ32MQ0.
PRIDEQ32MQ0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269394; ENSP00000269394; ENSG00000141579.
GeneID79755.
KEGGhsa:79755.
UCSCuc002kga.3. human.

Organism-specific databases

CTD79755.
GeneCardsGC17M080787.
HGNCHGNC:25843. ZNF750.
HPAHPA021573.
HPA023012.
MIM610226. gene.
610227. phenotype.
neXtProtNX_Q32MQ0.
Orphanet168606. Seborrhea-like dermatitis with psoriasiform elements.
PharmGKBPA145149939.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG28387.
HOGENOMHOG000049178.
HOVERGENHBG080198.
InParanoidQ32MQ0.
OMAHYRFFQQ.
OrthoDBEOG7G1V5J.
PhylomeDBQ32MQ0.
TreeFamTF331381.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ32MQ0.
BgeeQ32MQ0.
CleanExHS_ZNF750.
GenevestigatorQ32MQ0.

Family and domain databases

InterProIPR015880. Znf_C2H2-like.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79755.
NextBio69211.
PROQ32MQ0.
SOURCESearch...

Entry information

Entry nameZN750_HUMAN
AccessionPrimary (citable) accession number: Q32MQ0
Secondary accession number(s): Q9H899
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: December 6, 2005
Last modified: July 9, 2014
This is version 73 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM