Skip Header

 
Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot Q5THK1 (CV030_HUMAN)

Last modified November 24, 2009. Version 36. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Uncharacterized protein C22orf30
Gene names
Name: C22orf30
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2151 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Post-translational modification

Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.5 Ref.6

Sequence caution

The sequence BAB15536.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB15536.1 differs from that shown. Reason: Frameshift at position 1174.

The sequence CAI22445.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5THK1-1)

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: Q5THK1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2001-2151: AEPEKRPKKV...EEEQEQSSGC → VKEEGV
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5THK1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1234-1239: SLKSIE → SPCLTT
     1240-2151: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q5THK1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     2061-2151: CLETIFEEPK...EEEQEQSSGC → DLDSSCPSTD...TWAGRGDSSL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 21512151Uncharacterized protein C22orf30
PRO_0000295739

Amino acid modifications

Modified residue1571Phosphoserine Ref.5
Modified residue10291Phosphoserine Ref.6
Modified residue19941Phosphoserine

Natural variations

Alternative sequence1234 – 12396SLKSIE → SPCLTT in isoform 3.
VSP_027046
Alternative sequence1240 – 2151912Missing in isoform 3.
VSP_027047
Alternative sequence2001 – 2151151AEPEK…QSSGC → VKEEGV in isoform 2.
VSP_027048
Alternative sequence2061 – 215191CLETI…QSSGC → DLDSSCPSTDSETGHFLVFG YAQRQAQPHPLLASRRLIGC SSPEGRGHPRSYPYWRRLLV LCWYLPGWRAGRVTWLRLAT WAGRGDSSL in isoform 4.
VSP_027049
Natural variant4551N → S: dbSNP rs140081.
VAR_059641
Natural variant7401L → P: dbSNP rs140080.
VAR_059642
Natural variant8761M → I: dbSNP rs17821493.
VAR_059643
Natural variant9611T → I: dbSNP rs140079.
VAR_059644
Natural variant9631D → N: dbSNP rs9619227.
VAR_059645
Natural variant11511S → P: dbSNP rs12159328.
VAR_059646
Natural variant12211S → L: dbSNP rs140078.
VAR_059647
Natural variant13951L → F: dbSNP rs3804090.
VAR_059648
Natural variant17841V → I: dbSNP rs16989427.
VAR_059649

Experimental info

Sequence conflict8851I → N in BAB15536. Ref.3
Sequence conflict12231S → F in BAB15536. Ref.3

Sequences

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

Last modified December 21, 2004. Version 1.
Checksum: A1E0277094885E1F

FASTA2,151237,300
        10         20         30         40         50         60 
MLSSGVETQP VPLDSSMSAV VQELYSELPV SVSRELHADP EPSVIPDVKP GASSSLLSQN 

        70         80         90        100        110        120 
RALPLELQRT HVESCCEETY ETLDHGSEPG RCGLVDSTAG GSVASGILDR AKRSESMEPK 

       130        140        150        160        170        180 
VFRDPGGQAG IIREPSEGAK EDPHQHSTAA EEKTSPSQED LLMQSSKELS HVDLPEDFLR 

       190        200        210        220        230        240 
SKEGNVQITA ETLLKSAEVQ GMKVNGTKTD NNEGHKNGNV SKDLSAGCGE FQEVDKIMTS 

       250        260        270        280        290        300 
DEVSETSTLV TPEPLTFVDP VLTEATPKEK ECEELKSCPW LSLPGNSAIS NVDNGKEELC 

       310        320        330        340        350        360 
KPNLVCEADD NHQQLHGHHN EQPSSTHDSP TATSPLKENS EVSCFTSDLS GPESRTISLE 

       370        380        390        400        410        420 
NCGFEGGGLL KRSAEKTDSS YFYRGDDQGK NLASREENEE RLLIPRSERG GPFLFNAREP 

       430        440        450        460        470        480 
EKEISGRCSG EKEPVVSPKE NIHNNCIQDS LHTGNSSSLM PNSFTEATEV MLNKNDLKIT 

       490        500        510        520        530        540 
VHVQGNLTNP EDHKETFTNM SHPGGHSEES SFSSLMQIEE AGQTTPVEPN ILSKSFYTKD 

       550        560        570        580        590        600 
CNSLVSIQRN LEGNTQLNEA SCNDFLFERK SIVSLMPEDQ ISPVSEVLKP KQGTALLLPS 

       610        620        630        640        650        660 
PEFDYRPESE KVIQTSHDDI PLLDEQSIAC EMNELSCTNE LVVNKVESEC VLNQQVSLNS 

       670        680        690        700        710        720 
QEHANLPTDS LLHLNKEMPL ATGRDAHQSH HPPLEGRADV IADIQTIPIQ TKIKDISPPG 

       730        740        750        760        770        780 
NQTCGASSNC PTLNIKPVSL ERKKEMADSG TKALHSRLRS NKREAAGFPQ VVSVIECHSV 

       790        800        810        820        830        840 
QSQDISSCHR VRKNVSQENM CSASAAFKSS KISLQVDNSL ITKYENAFQH RDHCCQGTGH 

       850        860        870        880        890        900 
SVEKSSCKVS YTSQERELDG KETNGSLPGD KIRNKMVAGL LNSGISNKTI HTSSSIKLSE 

       910        920        930        940        950        960 
EGLEGKEQDV SKETVFCKYN ISDHAIQELN QTVNIPGPEK VLDQSPTVMF SSFKNVKSVE 

       970        980        990       1000       1010       1020 
TLDQKADEVL DCQSNQNRPD ECKSEGQSAK EMLSSDQRET VTEPHGEVNH NQKDLLVSSG 

      1030       1040       1050       1060       1070       1080 
SNNSLPCGSP KKCNLKGAFV KMSGCDESTE GMVDIVYTDC SNKLAEGVLD VKASNLLDCG 

      1090       1100       1110       1120       1130       1140 
ARQEKLAFQE DSRSTLSRRE LDAAHTGTTG QDSDFPVTAA STVDFLKIKK SCEENVCRSL 

      1150       1160       1170       1180       1190       1200 
KDCEMEKCPD SCAHEMESVA DHEPNKRILG RVNLSLNDSH YGQQDKGTSL RETQEMTEGS 

      1210       1220       1230       1240       1250       1260 
RLEPNSEFGK ESTFGISSKE SMSCHDESSV SLRSLKSIEI MPSQENSETN VNSEETDLKN 

      1270       1280       1290       1300       1310       1320 
LCKPKDGEML CENVKDCTVL PEMKEIVSRD WSNSSDRDSV CTCVEKNACK ACHPHENSSD 

      1330       1340       1350       1360       1370       1380 
RHLPLTVKTD IKVKGEETEE HQRGRLGYLT VGEQSEELVT RETGDGDPVS NISQTHFKCR 

      1390       1400       1410       1420       1430       1440 
GILNHAEKQQ SPEVLDYMLQ KEEKYIRQQK AHTISQQCIS SSLLLDDAQN QNQPKADKDE 

      1450       1460       1470       1480       1490       1500 
STMINEITLA KLAKDSIVAQ TQKLEDQKEE RLHHPLRKDT ESCTSPCLLG APRKAQDPSS 

      1510       1520       1530       1540       1550       1560 
AGCDQIHGAF AKKGVLPLKK QPHRTCKKVS YQEQIIVGRK IGKIRSSAFL KSSSNPIPTK 

      1570       1580       1590       1600       1610       1620 
AHRLLSLCTL SAPTRLEPET APTKSLVSHI PKQMSTPCHP LRSLNFRKTT KESALLNKLS 

      1630       1640       1650       1660       1670       1680 
ILASKLAPAM KTQKLRYRRC SSELLPMAKS YKRLRYKRLL DGFSSSTEQL NPYLAASGWD 

      1690       1700       1710       1720       1730       1740 
KRPNSKPMAL YSLESIKMTF IDLSNKMPSL LFGSEIFPVS FHVKSSSSDC TTESSRTFPE 

      1750       1760       1770       1780       1790       1800 
HCAPARLALG EALQCPSQPP KWTFSFFLSH GCPGMATFRE DTGVHSQTHT QAPPQPPAPL 

      1810       1820       1830       1840       1850       1860 
QDYGGTAIVQ TRADCSVLGL HTLLALCSPG CYRIWTKKRS FSSHMPTMQR LFMTQFTQGL 

      1870       1880       1890       1900       1910       1920 
KGLRSPASIA DKVFCSLPYS VGRVLSIWSQ HGPSVCSFEI SSLHSPHCKR QPSLGTTSSH 

      1930       1940       1950       1960       1970       1980 
TMLPYVPLPG MEATYNTSGS QTRLEPPFPA LVPKSCLVAE SAVSKLLLSA SEFQVRGLDE 

      1990       2000       2010       2020       2030       2040 
LDGVKAACPC PQSSPPEQKE AEPEKRPKKV SQIRIRKTIP RPDPNLTPMG LPRPKRLKKK 

      2050       2060       2070       2080       2090       2100 
EFSLEEIYTN KNYKSPPANR CLETIFEEPK ERNGTLISIS QQKRKRVLEF QDFTVPRKRR 

      2110       2120       2130       2140       2150 
ARGKVKVAGS FTRAQKAAVQ SRELDALLIQ KLMELETFFA KEEEQEQSSG C 

« Hide

Isoform 2.

Checksum: BE3CD185A946DA43
Show »

FASTA2,006220,377
Isoform 3.

Checksum: A755F4609C90D017
Show »

FASTA1,239135,393
Isoform 4.

Checksum: 1936AAA31D63A913
Show »

FASTA2,149236,883

References

[1]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed: 10591208] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 619-2151 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1332-2151 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1945-2151 (ISOFORM 1).
Tissue: Adrenal gland, Lung and Uterus.
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1699-2151 (ISOFORM 4).
Tissue: Uterus.
[5]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-157, MASS SPECTROMETRY.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1029, MASS SPECTROMETRY.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1029 AND SER-1994, MASS SPECTROMETRY.

Cross-references

Sequence databases

CT841517 mRNA. Translation: CAJ86447.1.
AL031255, AC005004 Genomic DNA. Translation: CAI22445.1. Sequence problems.
AL031255, AC005004 Genomic DNA. Translation: CAI22448.1.
AK026712 mRNA. Translation: BAB15536.1. Sequence problems.
AK123082 mRNA. Translation: BAC85533.1. Different initiation.
AK130944 mRNA. Translation: BAC85470.1. Different initiation.
BC040859 mRNA. Translation: AAH40859.1. Different initiation.
IPIIPI00217178.
IPI00643747.
IPI00852797.
IPI00854670.
RefSeqNP_775837.2.
UniGeneHs.438906

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ5THK1.

Proteomic databases

PRIDEQ5THK1.

Genome annotation databases

EnsemblENST00000327423; ENSP00000331845; ENSG00000183530; Homo sapiens. [Genome view]
GeneID253143.
KEGGhsa:253143.
UCSCuc003alo.1. human.
uc003alp.2. human.
uc010gwj.1. human.

Organism-specific databases

CTD253143.
GeneCardsGC22M030402.
HGNCHGNC:28738. C22orf30.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ5THK1.
HOVERGENQ5THK1.

Gene expression databases

ArrayExpressQ5THK1.
BgeeQ5THK1.
CleanExHS_C22orf30.
GenevestigatorQ5THK1.

Family and domain databases

ProtoNetSearch...

Other Resources

NextBio92063.

Entry information

Entry nameCV030_HUMAN
AccessionPrimary (citable) accession number: Q5THK1
Secondary accession number(s): Q5THK4 expand/collapse secondary AC list , Q6ZNN1, Q6ZWH0, Q8IW74, Q9H5T4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: December 21, 2004
Last modified: November 24, 2009
This is version 36 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents