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Q9NQZ6 (ZC4H2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger C4H2 domain-containing protein
Alternative name(s):
Hepatocellular carcinoma-associated antigen 127
Gene names
Name:ZC4H2
Synonyms:HCA127, KIAA1166
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length224 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in neuronal development and in neuromuscular junction formation. Ref.8

Subcellular location

Cytoplasm. Nucleus. Cell junctionsynapsepostsynaptic cell membrane. Note: Upon transfection into mouse primary hippocampal neurons, localizes at excitatory, but not inhibitory, postsynaptic sites. Ref.8

Tissue specificity

Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle. Ref.8

Involvement in disease

Wieacker-Wolf syndrome (WRWF) [MIM:314580]: A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Contains 1 C4H2-type zinc finger.

Sequence caution

The sequence BAA86480.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NQZ6-1)

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.
Isoform 2 (identifier: Q9NQZ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     133-133: D → E
     134-224: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NQZ6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NQZ6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     133-224: DYFEKQKAEW...PKKPKRKQDE → EPACHVTSKF...SRMNKEREST
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9NQZ6-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MADEQEIMCKLESIKEI → MIHFHLIFLYVA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 224224Zinc finger C4H2 domain-containing protein
PRO_0000083911

Regions

Zinc finger189 – 20618C4H2-type
Coiled coil11 – 10494 Potential

Natural variations

Alternative sequence1 – 2323Missing in isoform 3.
VSP_013469
Alternative sequence1 – 1717MADEQ…SIKEI → MIHFHLIFLYVA in isoform 5.
VSP_047588
Alternative sequence133 – 22492DYFEK…RKQDE → EPACHVTSKFTGMHLYALFA RPRVGPGTPKSRNGSRMNKE REST in isoform 4.
VSP_042513
Alternative sequence1331D → E in isoform 2.
VSP_008517
Alternative sequence134 – 22491Missing in isoform 2.
VSP_008518
Natural variant631V → L in WRWF; causes a decrease in synapse number and density. Ref.8
VAR_069621
Natural variant1981R → Q in WRWF; causes a decrease in synapse number and density. Ref.8
VAR_069622
Natural variant2011P → S in WRWF; causes a decrease in synapse number and density. Ref.8
VAR_069623
Natural variant2131R → W in WRWF. Ref.8
VAR_069624

Experimental info

Sequence conflict271I → V in BAG53957. Ref.4
Sequence conflict521M → T in BAG53957. Ref.4
Sequence conflict1501P → S in BAD96428. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: B8392407FB4A2012

FASTA22426,244
        10         20         30         40         50         60 
MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ EMDLLLQEKM 

        70         80         90        100        110        120 
AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE YKPLKEHVDA LRMTLGLQRL 

       130        140        150        160        170        180 
PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP IPESLAAAAA AAQQLQVARK QDTRQTATFR 

       190        200        210        220 
QQPPPMKACL SCHQQIHRNA PICPLCKAKS RSRNPKKPKR KQDE 

« Hide

Isoform 2 [UniParc].

Checksum: 63578CC8A2BE1FC1
Show »

FASTA13315,886
Isoform 3 [UniParc].

Checksum: AC9969EFA7DC4E87
Show »

FASTA20123,511
Isoform 4 [UniParc].

Checksum: 2D84A7C99B29EB56
Show »

FASTA17620,643
Isoform 5 [UniParc].

Checksum: 0885738789AE41B7
Show »

FASTA21925,738

References

« Hide 'large scale' references
[1]"Large scale identification of human hepatocellular carcinoma-associated antigens by autoantibodies."
Wang Y., Han K.-J., Pang X.-W., Vaughan H.A., Qu W., Dong X.-Y., Peng J.-R., Zhao H.-T., Rui J.-A., Leng X.-S., Cebon J., Burgess A.W., Chen W.-F.
J. Immunol. 169:1102-1109(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Hepatoma.
[2]"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"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] (ISOFORMS 1; 3; 4 AND 5).
Tissue: Cerebellum, Neuroblastoma and Teratocarcinoma.
[4]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Colon.
[5]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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] (ISOFORM 1).
Tissue: Pancreas.
[8]"ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity."
Hirata H., Nanda I., van Riesen A., McMichael G., Hu H., Hambrock M., Papon M.A., Fischer U., Marouillat S., Ding C., Alirol S., Bienek M., Preisler-Adams S., Grimme A., Seelow D., Webster R., Haan E., Maclennan A. expand/collapse author list , Stenzel W., Yap T.Y., Gardner A., Nguyen L.S., Shaw M., Lebrun N., Haas S.A., Kress W., Haaf T., Schellenberger E., Chelly J., Viot G., Shaffer L.G., Rosenfeld J.A., Kramer N., Falk R., El-Khechen D., Escobar L.F., Hennekam R., Wieacker P., Hubner C., Ropers H.H., Gecz J., Schuelke M., Laumonnier F., Kalscheuer V.M.
Am. J. Hum. Genet. 92:681-695(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN WRWF, VARIANTS WRWF LEU-63; GLN-198; SER-201 AND TRP-213, CHARACTERIZATION OF VARIANTS WRWF LEU-63; GLN-198; SER-201 AND TRP-213, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF270491 mRNA. Translation: AAF75787.1.
AB032992 mRNA. Translation: BAA86480.1. Different initiation.
AK022807 mRNA. Translation: BAB14252.1.
AK022918 mRNA. Translation: BAB14308.1.
AK315485 mRNA. Translation: BAG37869.1.
AK123763 mRNA. Translation: BAG53957.1.
AK293570 mRNA. Translation: BAG57041.1.
AK222708 mRNA. Translation: BAD96428.1.
AL355606 Genomic DNA. No translation available.
CH471132 Genomic DNA. Translation: EAX05408.1.
CH471132 Genomic DNA. Translation: EAX05409.1.
BC004411 mRNA. Translation: AAH04411.1.
RefSeqNP_001171503.1. NM_001178032.2.
NP_001171504.1. NM_001178033.2.
NP_001230733.1. NM_001243804.1.
NP_061154.1. NM_018684.3.
UniGeneHs.28249.

3D structure databases

ProteinModelPortalQ9NQZ6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120992. 2 interactions.
IntActQ9NQZ6. 2 interactions.
MINTMINT-1458694.
STRING9606.ENSP00000363972.

PTM databases

PhosphoSiteQ9NQZ6.

Polymorphism databases

DMDM41688815.

Proteomic databases

PaxDbQ9NQZ6.
PRIDEQ9NQZ6.

Protocols and materials databases

DNASU55906.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337990; ENSP00000338650; ENSG00000126970. [Q9NQZ6-3]
ENST00000374839; ENSP00000363972; ENSG00000126970. [Q9NQZ6-1]
ENST00000447788; ENSP00000399126; ENSG00000126970. [Q9NQZ6-4]
ENST00000545618; ENSP00000440840; ENSG00000126970. [Q9NQZ6-5]
GeneID55906.
KEGGhsa:55906.
UCSCuc004dvu.3. human. [Q9NQZ6-1]
uc004dvw.2. human. [Q9NQZ6-2]
uc011mow.2. human. [Q9NQZ6-4]

Organism-specific databases

CTD55906.
GeneCardsGC0XM064136.
HGNCHGNC:24931. ZC4H2.
HPAHPA049584.
MIM300897. gene.
314580. phenotype.
neXtProtNX_Q9NQZ6.
Orphanet3454. Intellectual disability-developmental delay-contractures syndrome.
PharmGKBPA164727643.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG247527.
HOGENOMHOG000008107.
HOVERGENHBG051885.
InParanoidQ9NQZ6.
OMAADINAME.
OrthoDBEOG7DRJ4F.
PhylomeDBQ9NQZ6.
TreeFamTF315275.

Gene expression databases

ArrayExpressQ9NQZ6.
BgeeQ9NQZ6.
CleanExHS_ZC4H2.
GenevestigatorQ9NQZ6.

Family and domain databases

InterProIPR018482. Znf-C4H2.
[Graphical view]
PfamPF10146. zf-C4H2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZC4H2. human.
GeneWikiKIAA1166.
GenomeRNAi55906.
NextBio35470343.
PROQ9NQZ6.
SOURCESearch...

Entry information

Entry nameZC4H2_HUMAN
AccessionPrimary (citable) accession number: Q9NQZ6
Secondary accession number(s): B2RDC2 expand/collapse secondary AC list , B3KVZ5, B4DED0, E7EM74, G3V1L3, Q53H73, Q5JTF9, Q9H9C3, Q9H9H7, Q9ULQ4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 100 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 X

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