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Q96LP6 (CL042_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 65. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein C12orf42
Gene names
Name:C12orf42
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

Ontologies

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96LP6-1)

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: Q96LP6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96LP6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     87-107: VFPERTQNSMACKRLLHTCQY → GSHHGQATQKLQGAMVLHLEE
     108-360: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360Uncharacterized protein C12orf42
PRO_0000274274

Natural variations

Alternative sequence1 – 9595Missing in isoform 2.
VSP_022691
Alternative sequence87 – 10721VFPER…HTCQY → GSHHGQATQKLQGAMVLHLE E in isoform 3.
VSP_022692
Alternative sequence108 – 360253Missing in isoform 3.
VSP_022693
Natural variant111E → D. Ref.1 Ref.3
Corresponds to variant rs10778257 [ dbSNP | Ensembl ].
VAR_030229
Natural variant1821P → R.
Corresponds to variant rs7484376 [ dbSNP | Ensembl ].
VAR_030230

Experimental info

Sequence conflict381A → D in BC039352. Ref.3

Sequences

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

Last modified May 18, 2010. Version 2.
Checksum: 1935263A48633526

FASTA36039,738
        10         20         30         40         50         60 
MSTVICMKQR EEEFLLTIRP FANRMQKSPC YIPIVSSATL WDRSTPSAKH IPCYERTSVP 

        70         80         90        100        110        120 
CSRFINHMKN FSESPKFRSL HFLNFPVFPE RTQNSMACKR LLHTCQYIVP RCSVSTVSFD 

       130        140        150        160        170        180 
EESYEEFRSS PAPSSETDEA PLIFTARGET EERARGAPKQ AWNSSFLEQL VKKPNWAHSV 

       190        200        210        220        230        240 
NPVHLEAQGI HISRHTRPKG QPLSSPKKNS GSAARPSTAI GLCRRSQTPG ALQSTGPSNT 

       250        260        270        280        290        300 
ELEPEERMAV PAGAQAHPDD IQSRLLGASG NPVGKGAVAM APEMLPKHPH TPRDRRPQAD 

       310        320        330        340        350        360 
TSLHGNLAGA PLPLLAGAST HFPSKRLIKV CSSAPPRPTR RFHTVCSQAL SRPVVNAHLH 

« Hide

Isoform 2 [UniParc].

Checksum: D5B354AAD1F5D448
Show »

FASTA26528,584
Isoform 3 [UniParc].

Checksum: 544BEC0EA49969F5
Show »

FASTA10712,366

References

[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. 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] (ISOFORM 1), VARIANT ASP-11.
Tissue: Testis.
[2]"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. expand/collapse author list , 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].
[3]"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; 2 AND 3), VARIANT ASP-11.
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK058052 mRNA. Translation: BAB71641.1.
AC084364 Genomic DNA. No translation available.
AC090000 Genomic DNA. No translation available.
AC126176 Genomic DNA. No translation available.
BC039352 mRNA. No translation available.
BC044617 mRNA. Translation: AAH44617.1.
BC117392 mRNA. Translation: AAI17393.1.
BC117394 mRNA. Translation: AAI17395.1.
RefSeqNP_001092806.1. NM_001099336.2.
NP_001265348.1. NM_001278419.1.
NP_001265349.1. NM_001278420.1.
NP_940923.2. NM_198521.3.
UniGeneHs.534649.

3D structure databases

ProteinModelPortalQ96LP6.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ96LP6.

Proteomic databases

PaxDbQ96LP6.
PRIDEQ96LP6.

Protocols and materials databases

DNASU374470.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000315192; ENSP00000324984; ENSG00000179088. [Q96LP6-3]
ENST00000378113; ENSP00000367353; ENSG00000179088. [Q96LP6-1]
ENST00000547347; ENSP00000446908; ENSG00000179088. [Q96LP6-3]
ENST00000548883; ENSP00000447908; ENSG00000179088. [Q96LP6-1]
GeneID374470.
KEGGhsa:374470.
UCSCuc001tjt.2. human. [Q96LP6-1]

Organism-specific databases

CTD374470.
GeneCardsGC12M103631.
HGNCHGNC:24729. C12orf42.
HPAHPA039909.
neXtProtNX_Q96LP6.
PharmGKBPA143485372.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39516.
HOGENOMHOG000169664.
HOVERGENHBG081237.
InParanoidQ96LP6.
OMAFPERTQN.
OrthoDBEOG71VSTB.
PhylomeDBQ96LP6.
TreeFamTF338230.

Gene expression databases

ArrayExpressQ96LP6.
BgeeQ96LP6.
CleanExHS_C12orf42.
GenevestigatorQ96LP6.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi374470.
NextBio100205.

Entry information

Entry nameCL042_HUMAN
AccessionPrimary (citable) accession number: Q96LP6
Secondary accession number(s): Q49A64, Q4G0S2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 65 of the entry and version 2 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

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 12

Human chromosome 12: entries, gene names and cross-references to MIM