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Protein

Zinc finger C4H2 domain-containing protein

Gene

ZC4H2

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

Functioni

May play a role in neuronal development and in neuromuscular junction formation.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri189 – 20618C4H2-typeAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger C4H2 domain-containing protein
Alternative name(s):
Hepatocellular carcinoma-associated antigen 127
Gene namesi
Name:ZC4H2
Synonyms:HCA127, KIAA1166
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:24931. ZC4H2.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • postsynaptic membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Nucleus, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Wieacker-Wolf syndrome (WRWF)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:314580
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631V → L in WRWF; causes a decrease in synapse number and density. 1 Publication
VAR_069621
Natural varianti198 – 1981R → Q in WRWF; causes a decrease in synapse number and density. 1 Publication
VAR_069622
Natural varianti201 – 2011P → S in WRWF; causes a decrease in synapse number and density. 1 Publication
VAR_069623
Natural varianti213 – 2131R → W in WRWF. 1 Publication
VAR_069624

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi314580. phenotype.
Orphaneti3454. Intellectual disability-developmental delay-contractures syndrome.
PharmGKBiPA164727643.

Polymorphism and mutation databases

BioMutaiZC4H2.
DMDMi41688815.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 224224Zinc finger C4H2 domain-containing proteinPRO_0000083911Add
BLAST

Proteomic databases

MaxQBiQ9NQZ6.
PaxDbiQ9NQZ6.
PRIDEiQ9NQZ6.

PTM databases

PhosphoSiteiQ9NQZ6.

Expressioni

Tissue specificityi

Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle.1 Publication

Gene expression databases

BgeeiQ9NQZ6.
CleanExiHS_ZC4H2.
GenevestigatoriQ9NQZ6.

Organism-specific databases

HPAiHPA049584.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SORBS3O605043EBI-747993,EBI-741237
ZNF223Q9UK113EBI-747993,EBI-10322867
ZNF250P15622-33EBI-747993,EBI-10177272
ZNF490Q9ULM23EBI-747993,EBI-1105370
ZNF524Q96C553EBI-747993,EBI-10283126

Protein-protein interaction databases

BioGridi120992. 11 interactions.
IntActiQ9NQZ6. 7 interactions.
MINTiMINT-1458694.
STRINGi9606.ENSP00000363972.

Structurei

3D structure databases

ProteinModelPortaliQ9NQZ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili11 – 10494Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 1 C4H2-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri189 – 20618C4H2-typeAdd
BLAST

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG247527.
GeneTreeiENSGT00390000018389.
HOGENOMiHOG000008107.
HOVERGENiHBG051885.
InParanoidiQ9NQZ6.
OMAiNCRNKTL.
OrthoDBiEOG7DRJ4F.
PhylomeDBiQ9NQZ6.
TreeFamiTF315275.

Family and domain databases

InterProiIPR018482. Znf-C4H2.
[Graphical view]
PfamiPF10146. zf-C4H2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NQZ6-1) [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
MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ
60 70 80 90 100
EMDLLLQEKM AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE
110 120 130 140 150
YKPLKEHVDA LRMTLGLQRL PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP
160 170 180 190 200
IPESLAAAAA AAQQLQVARK QDTRQTATFR QQPPPMKACL SCHQQIHRNA
210 220
PICPLCKAKS RSRNPKKPKR KQDE
Length:224
Mass (Da):26,244
Last modified:October 1, 2000 - v1
Checksum:iB8392407FB4A2012
GO
Isoform 2 (identifier: Q9NQZ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-133: D → E
     134-224: Missing.

Note: No experimental confirmation available.

Show »
Length:133
Mass (Da):15,886
Checksum:i63578CC8A2BE1FC1
GO
Isoform 3 (identifier: Q9NQZ6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Note: No experimental confirmation available.

Show »
Length:201
Mass (Da):23,511
Checksum:iAC9969EFA7DC4E87
GO
Isoform 4 (identifier: Q9NQZ6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-224: DYFEKQKAEW...PKKPKRKQDE → EPACHVTSKF...SRMNKEREST

Note: No experimental confirmation available.

Show »
Length:176
Mass (Da):20,643
Checksum:i2D84A7C99B29EB56
GO
Isoform 5 (identifier: Q9NQZ6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MADEQEIMCKLESIKEI → MIHFHLIFLYVA

Note: No experimental confirmation available.

Show »
Length:219
Mass (Da):25,738
Checksum:i0885738789AE41B7
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 271I → V in BAG53957 (Ref. 4) Curated
Sequence conflicti52 – 521M → T in BAG53957 (Ref. 4) Curated
Sequence conflicti150 – 1501P → S in BAD96428 (Ref. 4) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631V → L in WRWF; causes a decrease in synapse number and density. 1 Publication
VAR_069621
Natural varianti198 – 1981R → Q in WRWF; causes a decrease in synapse number and density. 1 Publication
VAR_069622
Natural varianti201 – 2011P → S in WRWF; causes a decrease in synapse number and density. 1 Publication
VAR_069623
Natural varianti213 – 2131R → W in WRWF. 1 Publication
VAR_069624

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2323Missing in isoform 3. 1 PublicationVSP_013469Add
BLAST
Alternative sequencei1 – 1717MADEQ…SIKEI → MIHFHLIFLYVA in isoform 5. 1 PublicationVSP_047588Add
BLAST
Alternative sequencei133 – 22492DYFEK…RKQDE → EPACHVTSKFTGMHLYALFA RPRVGPGTPKSRNGSRMNKE REST in isoform 4. 1 PublicationVSP_042513Add
BLAST
Alternative sequencei133 – 1331D → E in isoform 2. 1 PublicationVSP_008517
Alternative sequencei134 – 22491Missing in isoform 2. 1 PublicationVSP_008518Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14380.1. [Q9NQZ6-1]
CCDS55431.1. [Q9NQZ6-3]
CCDS55432.1. [Q9NQZ6-4]
RefSeqiNP_001171503.1. NM_001178032.2. [Q9NQZ6-3]
NP_001171504.1. NM_001178033.2. [Q9NQZ6-4]
NP_001230733.1. NM_001243804.1. [Q9NQZ6-3]
NP_061154.1. NM_018684.3. [Q9NQZ6-1]
UniGeneiHs.28249.

Genome annotation databases

EnsembliENST00000337990; ENSP00000338650; ENSG00000126970. [Q9NQZ6-3]
ENST00000374839; ENSP00000363972; ENSG00000126970. [Q9NQZ6-1]
ENST00000447788; ENSP00000399126; ENSG00000126970. [Q9NQZ6-4]
GeneIDi55906.
KEGGihsa:55906.
UCSCiuc004dvu.3. human. [Q9NQZ6-1]
uc004dvw.2. human. [Q9NQZ6-2]
uc011mow.2. human. [Q9NQZ6-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14380.1. [Q9NQZ6-1]
CCDS55431.1. [Q9NQZ6-3]
CCDS55432.1. [Q9NQZ6-4]
RefSeqiNP_001171503.1. NM_001178032.2. [Q9NQZ6-3]
NP_001171504.1. NM_001178033.2. [Q9NQZ6-4]
NP_001230733.1. NM_001243804.1. [Q9NQZ6-3]
NP_061154.1. NM_018684.3. [Q9NQZ6-1]
UniGeneiHs.28249.

3D structure databases

ProteinModelPortaliQ9NQZ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120992. 11 interactions.
IntActiQ9NQZ6. 7 interactions.
MINTiMINT-1458694.
STRINGi9606.ENSP00000363972.

PTM databases

PhosphoSiteiQ9NQZ6.

Polymorphism and mutation databases

BioMutaiZC4H2.
DMDMi41688815.

Proteomic databases

MaxQBiQ9NQZ6.
PaxDbiQ9NQZ6.
PRIDEiQ9NQZ6.

Protocols and materials databases

DNASUi55906.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337990; ENSP00000338650; ENSG00000126970. [Q9NQZ6-3]
ENST00000374839; ENSP00000363972; ENSG00000126970. [Q9NQZ6-1]
ENST00000447788; ENSP00000399126; ENSG00000126970. [Q9NQZ6-4]
GeneIDi55906.
KEGGihsa:55906.
UCSCiuc004dvu.3. human. [Q9NQZ6-1]
uc004dvw.2. human. [Q9NQZ6-2]
uc011mow.2. human. [Q9NQZ6-4]

Organism-specific databases

CTDi55906.
GeneCardsiGC0XM064136.
HGNCiHGNC:24931. ZC4H2.
HPAiHPA049584.
MIMi300897. gene.
314580. phenotype.
neXtProtiNX_Q9NQZ6.
Orphaneti3454. Intellectual disability-developmental delay-contractures syndrome.
PharmGKBiPA164727643.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG247527.
GeneTreeiENSGT00390000018389.
HOGENOMiHOG000008107.
HOVERGENiHBG051885.
InParanoidiQ9NQZ6.
OMAiNCRNKTL.
OrthoDBiEOG7DRJ4F.
PhylomeDBiQ9NQZ6.
TreeFamiTF315275.

Miscellaneous databases

ChiTaRSiZC4H2. human.
GeneWikiiKIAA1166.
GenomeRNAii55906.
NextBioi35470343.
PROiQ9NQZ6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NQZ6.
CleanExiHS_ZC4H2.
GenevestigatoriQ9NQZ6.

Family and domain databases

InterProiIPR018482. Znf-C4H2.
[Graphical view]
PfamiPF10146. zf-C4H2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. 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.

Entry informationi

Entry nameiZC4H2_HUMAN
AccessioniPrimary (citable) accession number: Q9NQZ6
Secondary accession number(s): B2RDC2
, B3KVZ5, B4DED0, E7EM74, G3V1L3, Q53H73, Q5JTF9, Q9H9C3, Q9H9H7, Q9ULQ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 1, 2000
Last modified: April 29, 2015
This is version 107 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 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

External Data

Dasty 3

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 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.