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Q96LP6

- CL042_HUMAN

UniProt

Q96LP6 - CL042_HUMAN

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Protein
Uncharacterized protein C12orf42
Gene
C12orf42
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C12orf42
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:24729. C12orf42.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485372.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 360360Uncharacterized protein C12orf42
PRO_0000274274Add
BLAST

Proteomic databases

PaxDbiQ96LP6.
PRIDEiQ96LP6.

PTM databases

PhosphoSiteiQ96LP6.

Expressioni

Gene expression databases

ArrayExpressiQ96LP6.
BgeeiQ96LP6.
CleanExiHS_C12orf42.
GenevestigatoriQ96LP6.

Organism-specific databases

HPAiHPA039909.

Structurei

3D structure databases

ProteinModelPortaliQ96LP6.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG39516.
HOGENOMiHOG000169664.
HOVERGENiHBG081237.
InParanoidiQ96LP6.
OMAiNLSEMIF.
OrthoDBiEOG71VSTB.
PhylomeDBiQ96LP6.
TreeFamiTF338230.

Family and domain databases

InterProiIPR029288. DUF4607.
[Graphical view]
PfamiPF15380. DUF4607. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96LP6-1) [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

MSTVICMKQR EEEFLLTIRP FANRMQKSPC YIPIVSSATL WDRSTPSAKH    50
IPCYERTSVP CSRFINHMKN FSESPKFRSL HFLNFPVFPE RTQNSMACKR 100
LLHTCQYIVP RCSVSTVSFD EESYEEFRSS PAPSSETDEA PLIFTARGET 150
EERARGAPKQ AWNSSFLEQL VKKPNWAHSV NPVHLEAQGI HISRHTRPKG 200
QPLSSPKKNS GSAARPSTAI GLCRRSQTPG ALQSTGPSNT ELEPEERMAV 250
PAGAQAHPDD IQSRLLGASG NPVGKGAVAM APEMLPKHPH TPRDRRPQAD 300
TSLHGNLAGA PLPLLAGAST HFPSKRLIKV CSSAPPRPTR RFHTVCSQAL 350
SRPVVNAHLH 360
Length:360
Mass (Da):39,738
Last modified:May 18, 2010 - v2
Checksum:i1935263A48633526
GO
Isoform 2 (identifier: Q96LP6-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: No experimental confirmation available.

Show »
Length:265
Mass (Da):28,584
Checksum:iD5B354AAD1F5D448
GO
Isoform 3 (identifier: Q96LP6-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:107
Mass (Da):12,366
Checksum:i544BEC0EA49969F5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111E → D.2 Publications
Corresponds to variant rs10778257 [ dbSNP | Ensembl ].
VAR_030229
Natural varianti182 – 1821P → R.
Corresponds to variant rs7484376 [ dbSNP | Ensembl ].
VAR_030230

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9595Missing in isoform 2.
VSP_022691Add
BLAST
Alternative sequencei87 – 10721VFPER…HTCQY → GSHHGQATQKLQGAMVLHLE E in isoform 3.
VSP_022692Add
BLAST
Alternative sequencei108 – 360253Missing in isoform 3.
VSP_022693Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti38 – 381A → D in BC039352. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS44963.1. [Q96LP6-1]
RefSeqiNP_001092806.1. NM_001099336.2. [Q96LP6-1]
NP_001265348.1. NM_001278419.1. [Q96LP6-2]
NP_001265349.1. NM_001278420.1. [Q96LP6-2]
NP_940923.2. NM_198521.3. [Q96LP6-1]
XP_006719443.1. XM_006719380.1. [Q96LP6-2]
UniGeneiHs.534649.

Genome annotation databases

EnsembliENST00000315192; ENSP00000324984; ENSG00000179088. [Q96LP6-3]
ENST00000378113; ENSP00000367353; ENSG00000179088. [Q96LP6-1]
ENST00000547347; ENSP00000446908; ENSG00000179088. [Q96LP6-3]
ENST00000548883; ENSP00000447908; ENSG00000179088. [Q96LP6-1]
GeneIDi374470.
KEGGihsa:374470.
UCSCiuc001tjt.2. human. [Q96LP6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS44963.1. [Q96LP6-1 ]
RefSeqi NP_001092806.1. NM_001099336.2. [Q96LP6-1 ]
NP_001265348.1. NM_001278419.1. [Q96LP6-2 ]
NP_001265349.1. NM_001278420.1. [Q96LP6-2 ]
NP_940923.2. NM_198521.3. [Q96LP6-1 ]
XP_006719443.1. XM_006719380.1. [Q96LP6-2 ]
UniGenei Hs.534649.

3D structure databases

ProteinModelPortali Q96LP6.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q96LP6.

Proteomic databases

PaxDbi Q96LP6.
PRIDEi Q96LP6.

Protocols and materials databases

DNASUi 374470.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000315192 ; ENSP00000324984 ; ENSG00000179088 . [Q96LP6-3 ]
ENST00000378113 ; ENSP00000367353 ; ENSG00000179088 . [Q96LP6-1 ]
ENST00000547347 ; ENSP00000446908 ; ENSG00000179088 . [Q96LP6-3 ]
ENST00000548883 ; ENSP00000447908 ; ENSG00000179088 . [Q96LP6-1 ]
GeneIDi 374470.
KEGGi hsa:374470.
UCSCi uc001tjt.2. human. [Q96LP6-1 ]

Organism-specific databases

CTDi 374470.
GeneCardsi GC12M103631.
HGNCi HGNC:24729. C12orf42.
HPAi HPA039909.
neXtProti NX_Q96LP6.
PharmGKBi PA143485372.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39516.
HOGENOMi HOG000169664.
HOVERGENi HBG081237.
InParanoidi Q96LP6.
OMAi NLSEMIF.
OrthoDBi EOG71VSTB.
PhylomeDBi Q96LP6.
TreeFami TF338230.

Miscellaneous databases

GenomeRNAii 374470.
NextBioi 100205.

Gene expression databases

ArrayExpressi Q96LP6.
Bgeei Q96LP6.
CleanExi HS_C12orf42.
Genevestigatori Q96LP6.

Family and domain databases

InterProi IPR029288. DUF4607.
[Graphical view ]
Pfami PF15380. DUF4607. 1 hit.
[Graphical view ]
ProtoNeti Search...

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 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.
    , 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.

Entry informationi

Entry nameiCL042_HUMAN
AccessioniPrimary (citable) accession number: Q96LP6
Secondary accession number(s): Q49A64, Q4G0S2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 68 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 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

External Data

Dasty 3

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