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Protein

Uncharacterized protein C12orf40

Gene

C12orf40

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

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C12orf40
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26846. C12orf40.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485370.

Polymorphism and mutation databases

BioMutaiC12orf40.
DMDMi121944433.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 652652Uncharacterized protein C12orf40PRO_0000348051Add
BLAST

Proteomic databases

PaxDbiQ86WS4.
PRIDEiQ86WS4.

PTM databases

iPTMnetiQ86WS4.
PhosphoSiteiQ86WS4.

Expressioni

Gene expression databases

BgeeiQ86WS4.
CleanExiHS_C12orf40.
ExpressionAtlasiQ86WS4. baseline and differential.
GenevisibleiQ86WS4. HS.

Organism-specific databases

HPAiHPA039031.
HPA039032.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DYNLL2Q96FJ23EBI-10286004,EBI-742371

Protein-protein interaction databases

BioGridi129571. 1 interaction.
IntActiQ86WS4. 1 interaction.
STRINGi9606.ENSP00000317671.

Structurei

3D structure databases

ProteinModelPortaliQ86WS4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IVK5. Eukaryota.
ENOG410XVS9. LUCA.
GeneTreeiENSGT00390000002848.
HOGENOMiHOG000081762.
InParanoidiQ86WS4.
OMAiQCNSAHI.
OrthoDBiEOG7288R8.
PhylomeDBiQ86WS4.
TreeFamiTF336354.

Family and domain databases

InterProiIPR027883. DUF4552.
[Graphical view]
PfamiPF15089. DUF4552. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86WS4-1) [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
MNWVGGSRSR VLIKQERRKQ KEYFEKHRLK SKMKSLGVLS PVKNSAVSLD
60 70 80 90 100
ILNLYMVNQI SCKKKIPETV RKPTHVNMNR DIKMPLRKHN LELTMSPHCV
110 120 130 140 150
PSKLCLDDTE TNVNCQRLSS KEDLGPVQSQ GMDSYSMLHP QFSKIENCSF
160 170 180 190 200
TPSSFSVELP SNRHISKLNF TSGIAPTPQK LAYEKKQNDQ RSTVNCSDSL
210 220 230 240 250
LSKLNKSQDV FSPSHKTTRF GTLFERLNSL GNRNLLTKSP AVIMDEDCRS
260 270 280 290 300
TDEIRQSDYI TEKHSIQHIW GKNGKEVSNF LEDVNQSTPN LLSENCDSFV
310 320 330 340 350
SQNMINVLNI DEQRIKKTFN KCDYDSMGDT CVVTSSDKNH VTDRCIRNIF
360 370 380 390 400
TVPELTFSNS TLNKTSYPEK CQPNKKYQRE YNKNERNDLS TSFENDYYPS
410 420 430 440 450
SSERKEKFEN DYQEKTPQKS IQKYPANSMG NIPSEELHSK QSWDFGLDEI
460 470 480 490 500
LMEEGGIYSL KSKRISTKKI SLDSAQSSRS TSYSPRPTDS CFSSSSDLPS
510 520 530 540 550
EDEDQISQQI EDSNRMTIKT KEKMNNFYVE RMAKLSGDRI VKNDDKIHKQ
560 570 580 590 600
NENFYQFSVK NNTDQFPQLQ CNSAHILQNK TNDNCVLQAA RCDAGIQTES
610 620 630 640 650
ESVMEEKLDV AIQCDLISKC TCRSDVSLCN LERCSGNIKA DTTGGQEIHK

NN
Length:652
Mass (Da):74,505
Last modified:September 19, 2006 - v3
Checksum:iDBE494C3C183E77C
GO
Isoform 2 (identifier: Q86WS4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-477: SLDSAQS → CQYNCIS
     478-652: Missing.

Note: No experimental confirmation available.
Show »
Length:477
Mass (Da):54,887
Checksum:i2977FC650B9706BF
GO
Isoform 3 (identifier: Q86WS4-3) [UniParc]FASTAAdd to basket

Also known as: HEL-206

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     429-471: MGNIPSEELH...SKRISTKKIS → IWCTKCSEFK...QAFLNNDLQL
     472-652: Missing.

Show »
Length:394
Mass (Da):45,453
Checksum:i76263DC739539F3D
GO

Sequence cautioni

The sequence AAH38754.2 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131I → L.
Corresponds to variant rs58302581 [ dbSNP | Ensembl ].
VAR_061610

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7777Missing in isoform 3. 2 PublicationsVSP_035082Add
BLAST
Alternative sequencei429 – 47143MGNIP…TKKIS → IWCTKCSEFKVIFTLIHYVL MLNLFLKSLRTAFQAFLNND LQL in isoform 3. 2 PublicationsVSP_035083Add
BLAST
Alternative sequencei471 – 4777SLDSAQS → CQYNCIS in isoform 2. 1 PublicationVSP_035084
Alternative sequencei472 – 652181Missing in isoform 3. 2 PublicationsVSP_035086Add
BLAST
Alternative sequencei478 – 652175Missing in isoform 2. 1 PublicationVSP_035085Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097445 mRNA. Translation: BAC05057.1.
EU668334 mRNA. Translation: ACF94487.1.
AC125491 Genomic DNA. No translation available.
BC038754 mRNA. Translation: AAH38754.2. Different initiation.
BC048120 mRNA. Translation: AAH48120.3.
CCDSiCCDS41770.1. [Q86WS4-1]
RefSeqiNP_001026918.2. NM_001031748.3. [Q86WS4-1]
NP_001306176.1. NM_001319247.1. [Q86WS4-2]
UniGeneiHs.648205.

Genome annotation databases

EnsembliENST00000324616; ENSP00000317671; ENSG00000180116. [Q86WS4-1]
ENST00000405531; ENSP00000383897; ENSG00000180116. [Q86WS4-2]
ENST00000468200; ENSP00000473371; ENSG00000180116. [Q86WS4-3]
GeneIDi283461.
KEGGihsa:283461.
UCSCiuc001rmc.5. human. [Q86WS4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097445 mRNA. Translation: BAC05057.1.
EU668334 mRNA. Translation: ACF94487.1.
AC125491 Genomic DNA. No translation available.
BC038754 mRNA. Translation: AAH38754.2. Different initiation.
BC048120 mRNA. Translation: AAH48120.3.
CCDSiCCDS41770.1. [Q86WS4-1]
RefSeqiNP_001026918.2. NM_001031748.3. [Q86WS4-1]
NP_001306176.1. NM_001319247.1. [Q86WS4-2]
UniGeneiHs.648205.

3D structure databases

ProteinModelPortaliQ86WS4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129571. 1 interaction.
IntActiQ86WS4. 1 interaction.
STRINGi9606.ENSP00000317671.

PTM databases

iPTMnetiQ86WS4.
PhosphoSiteiQ86WS4.

Polymorphism and mutation databases

BioMutaiC12orf40.
DMDMi121944433.

Proteomic databases

PaxDbiQ86WS4.
PRIDEiQ86WS4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324616; ENSP00000317671; ENSG00000180116. [Q86WS4-1]
ENST00000405531; ENSP00000383897; ENSG00000180116. [Q86WS4-2]
ENST00000468200; ENSP00000473371; ENSG00000180116. [Q86WS4-3]
GeneIDi283461.
KEGGihsa:283461.
UCSCiuc001rmc.5. human. [Q86WS4-1]

Organism-specific databases

CTDi283461.
GeneCardsiC12orf40.
HGNCiHGNC:26846. C12orf40.
HPAiHPA039031.
HPA039032.
neXtProtiNX_Q86WS4.
PharmGKBiPA143485370.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVK5. Eukaryota.
ENOG410XVS9. LUCA.
GeneTreeiENSGT00390000002848.
HOGENOMiHOG000081762.
InParanoidiQ86WS4.
OMAiQCNSAHI.
OrthoDBiEOG7288R8.
PhylomeDBiQ86WS4.
TreeFamiTF336354.

Miscellaneous databases

ChiTaRSiC12orf40. human.
GenomeRNAii283461.
NextBioi93936.
PROiQ86WS4.

Gene expression databases

BgeeiQ86WS4.
CleanExiHS_C12orf40.
ExpressionAtlasiQ86WS4. baseline and differential.
GenevisibleiQ86WS4. HS.

Family and domain databases

InterProiIPR027883. DUF4552.
[Graphical view]
PfamiPF15089. DUF4552. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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.
    , 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] (ISOFORM 3).
    Tissue: Testis.
  2. Li J.Y., Wang H.Y., Liu F.J., Liu J.
    Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Epididymis.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Testis.

Entry informationi

Entry nameiCL040_HUMAN
AccessioniPrimary (citable) accession number: Q86WS4
Secondary accession number(s): B7WNU1
, Q8IXY6, Q8N818, V9HW02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 19, 2006
Last modified: May 11, 2016
This is version 92 of the entry and version 3 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 12
    Human chromosome 12: 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

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 one 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.