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Q9HCJ5

- ZSWM6_HUMAN

UniProt

Q9HCJ5 - ZSWM6_HUMAN

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Protein

Zinc finger SWIM domain-containing protein 6

Gene

ZSWIM6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri246 – 28338SWIM-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. zinc ion binding Source: InterPro

GO - Biological processi

  1. neuron projection morphogenesis Source: Ensembl
  2. regulation of neuron migration Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger SWIM domain-containing protein 6
Gene namesi
Name:ZSWIM6
Synonyms:KIAA1577
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:29316. ZSWIM6.

Pathology & Biotechi

Involvement in diseasei

Acromelic frontonasal dysostosis (AFND) [MIM:603671]: A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V-shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1163 – 11631R → W in AFND. 1 Publication
VAR_071802

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi603671. phenotype.
PharmGKBiPA134910181.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12151215Zinc finger SWIM domain-containing protein 6PRO_0000223105Add
BLAST

Proteomic databases

MaxQBiQ9HCJ5.
PaxDbiQ9HCJ5.
PRIDEiQ9HCJ5.

PTM databases

PhosphoSiteiQ9HCJ5.

Expressioni

Gene expression databases

BgeeiQ9HCJ5.
CleanExiHS_ZSWIM6.
GenevestigatoriQ9HCJ5.

Organism-specific databases

HPAiHPA035938.

Interactioni

Protein-protein interaction databases

BioGridi121714. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9HCJ5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi19 – 154136Gly-richAdd
BLAST
Compositional biasi155 – 1584Poly-Ser
Compositional biasi160 – 19738Ala-richAdd
BLAST

Sequence similaritiesi

Contains 1 SWIM-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri246 – 28338SWIM-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG322060.
GeneTreeiENSGT00390000012572.
HOGENOMiHOG000231419.
HOVERGENiHBG058098.
InParanoidiQ9HCJ5.
OMAiEQKSSWL.
OrthoDBiEOG74J970.
PhylomeDBiQ9HCJ5.
TreeFamiTF324881.

Family and domain databases

InterProiIPR007527. Znf_SWIM.
[Graphical view]
PROSITEiPS50966. ZF_SWIM. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9HCJ5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAERGQQPPP AKRLCCRPGG GGGGGGSSGG GGGAGGGYSS ACRPGPRAGG
60 70 80 90 100
AAAAAACGGG AALGLLPPGK TQSPESLLDI AARRVAEKWP FQRVEERFER
110 120 130 140 150
IPEPVQRRIV YWSFPRSERE ICMYSSFNTG GGAAGGPGDD SGGGGGAGGG
160 170 180 190 200
GGGGSSSSPA ATSAAATSAA AAAAAAAAAA AAAAGAGAPS VGAAGAADGG
210 220 230 240 250
DETRLPFRRG IALLESGCVD NVLQVGFHLS GTVTEPAIQS EPETVCNVAI
260 270 280 290 300
SFDRCKITSV TCSCGNKDIF YCAHVVALSL YRIRKPDQVK LHLPISETLF
310 320 330 340 350
QMNRDQLQKF VQYLITVHHT EVLPTAQKLA DEILSQNSEI NQVHGAPDPT
360 370 380 390 400
AGASIDDENC WHLDEEQVQE QVKLFLSQGG YHGSGKQLNL LFAKVREMLK
410 420 430 440 450
MRDSNGARML TLITEQFMAD PRLSLWRQQG TAMTDKYRQL WDELGALWMC
460 470 480 490 500
IVLNPHCKLE QKASWLKQLK KWNSVDVCPW EDGNHGSELP NLTNALPQGA
510 520 530 540 550
NANQDSSNRP HRTVFTRAIE ACDLHWQDSH LQHIISSDLY TNYCYHDDTE
560 570 580 590 600
NSLFDSRGWP LWHEHVPTAC ARVDALRSHG YPREALRLAI AIVNTLRRQQ
610 620 630 640 650
QKQLEMFRTQ KKELPHKNIT SITNLEGWVG HPLDPVGTLF SSLMEACRID
660 670 680 690 700
DENLSGFSDF TENMGQCKSL EYQHLPAHKF LEEGESYLTL AVEVALIGLG
710 720 730 740 750
QQRIMPDGLY TQEKVCRNEE QLISKLQEIE LDDTLVKIFR KQAVFLLEAG
760 770 780 790 800
PYSGLGEIIH RESVPMHTFA KYLFTSLLPH DAELAYKIAL RAMRLLVLES
810 820 830 840 850
TAPSGDLTRP HHIASVVPNR YPRWFTLSHI ESQQCELAST MLTAAKGDVR
860 870 880 890 900
RLETVLESIQ KNIHSSSHIF KLAQDAFKIA TLMDSLPDIT LLKVSLELGL
910 920 930 940 950
QVMRMTLSTL NWRRREMVRW LVTCATEVGV YALDSIMQTW FTLFTPTEAT
960 970 980 990 1000
SIVATTVMSN STIVRLHLDC HQQEKLASSA RTLALQCAMK DPQNCALSAL
1010 1020 1030 1040 1050
TLCEKDHIAF ETAYQIVLDA ATTGMSYTQL FTIARYMEHR GYPMRAYKLA
1060 1070 1080 1090 1100
TLAMTHLNLS YNQDTHPAIN DVLWACALSH SLGKNELAAI IPLVVKSVKC
1110 1120 1130 1140 1150
ATVLSDILRR CTLTTPGMVG LHGRRNSGKL MSLDKAPLRQ LLDATIGAYI
1160 1170 1180 1190 1200
NTTHSRLTHI SPRHYSEFIE FLSKARETFL MAHDGHIQFT QFIDNLKQIY
1210
KGKKKLMMLV RERFG
Length:1,215
Mass (Da):133,470
Last modified:May 5, 2009 - v2
Checksum:i828B5AA0644EECE0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1163 – 11631R → W in AFND. 1 Publication
VAR_071802

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC122718 Genomic DNA. No translation available.
AC008836 Genomic DNA. No translation available.
AB046797 mRNA. Translation: BAB13403.1.
CCDSiCCDS47215.1.
RefSeqiNP_065979.1. NM_020928.1.
UniGeneiHs.744939.

Genome annotation databases

EnsembliENST00000252744; ENSP00000252744; ENSG00000130449.
GeneIDi57688.
KEGGihsa:57688.
UCSCiuc003jsr.3. human.

Polymorphism databases

DMDMi229462808.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC122718 Genomic DNA. No translation available.
AC008836 Genomic DNA. No translation available.
AB046797 mRNA. Translation: BAB13403.1 .
CCDSi CCDS47215.1.
RefSeqi NP_065979.1. NM_020928.1.
UniGenei Hs.744939.

3D structure databases

ProteinModelPortali Q9HCJ5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121714. 1 interaction.

PTM databases

PhosphoSitei Q9HCJ5.

Polymorphism databases

DMDMi 229462808.

Proteomic databases

MaxQBi Q9HCJ5.
PaxDbi Q9HCJ5.
PRIDEi Q9HCJ5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252744 ; ENSP00000252744 ; ENSG00000130449 .
GeneIDi 57688.
KEGGi hsa:57688.
UCSCi uc003jsr.3. human.

Organism-specific databases

CTDi 57688.
GeneCardsi GC05P060628.
H-InvDB HIX0004892.
HGNCi HGNC:29316. ZSWIM6.
HPAi HPA035938.
MIMi 603671. phenotype.
615951. gene.
neXtProti NX_Q9HCJ5.
PharmGKBi PA134910181.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322060.
GeneTreei ENSGT00390000012572.
HOGENOMi HOG000231419.
HOVERGENi HBG058098.
InParanoidi Q9HCJ5.
OMAi EQKSSWL.
OrthoDBi EOG74J970.
PhylomeDBi Q9HCJ5.
TreeFami TF324881.

Miscellaneous databases

ChiTaRSi ZSWIM6. human.
GenomeRNAii 57688.
NextBioi 64517.
PROi Q9HCJ5.
SOURCEi Search...

Gene expression databases

Bgeei Q9HCJ5.
CleanExi HS_ZSWIM6.
Genevestigatori Q9HCJ5.

Family and domain databases

InterProi IPR007527. Znf_SWIM.
[Graphical view ]
PROSITEi PS50966. ZF_SWIM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 473-1215.
    Tissue: Brain.
  3. Cited for: VARIANT AFND TRP-1163.

Entry informationi

Entry nameiZSWM6_HUMAN
AccessioniPrimary (citable) accession number: Q9HCJ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 5, 2009
Last modified: October 29, 2014
This is version 81 of the entry and version 2 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 5
    Human chromosome 5: 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