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Protein

Protein FAM111B

Gene

FAM111B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM111B
Alternative name(s):
Cancer-associated nucleoprotein
Gene namesi
Name:FAM111B
Synonyms:CANP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:24200. FAM111B.

Pathology & Biotechi

Involvement in diseasei

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function.
See also OMIM:615704
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti621 – 6211Y → D in POIKTMP. 1 Publication
VAR_070953
Natural varianti627 – 6271R → G in POIKTMP. 1 Publication
VAR_070954
Natural varianti628 – 6281S → N in POIKTMP. 1 Publication
VAR_070955

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiFAM111B.
MIMi615704. phenotype.
Orphaneti221043. Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.
PharmGKBiPA143485469.

Polymorphism and mutation databases

BioMutaiFAM111B.
DMDMi74758524.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 734734Protein FAM111BPRO_0000274409Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ6SJ93.
MaxQBiQ6SJ93.
PaxDbiQ6SJ93.
PRIDEiQ6SJ93.

PTM databases

iPTMnetiQ6SJ93.
PhosphoSiteiQ6SJ93.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ6SJ93.
CleanExiHS_FAM111B.
ExpressionAtlasiQ6SJ93. baseline and differential.
GenevisibleiQ6SJ93. HS.

Organism-specific databases

HPAiHPA038637.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SETQ011053EBI-6309082,EBI-1053182

Protein-protein interaction databases

BioGridi131897. 13 interactions.
IntActiQ6SJ93. 10 interactions.
STRINGi9606.ENSP00000341565.

Structurei

3D structure databases

ProteinModelPortaliQ6SJ93.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM111 family.Curated

Phylogenomic databases

eggNOGiENOG410IHAZ. Eukaryota.
ENOG4112AWX. LUCA.
GeneTreeiENSGT00390000005182.
HOGENOMiHOG000112429.
HOVERGENiHBG081495.
InParanoidiQ6SJ93.
OMAiGYIFTCR.
OrthoDBiEOG7CRTRF.
PhylomeDBiQ6SJ93.
TreeFamiTF332538.

Family and domain databases

InterProiIPR009003. Peptidase_S1_PA.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6SJ93-1) [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
MNSMKTEENK SFSAMEDDQR TRPEVSKDTV MKQTHADTPV DHCLSGIRKC
60 70 80 90 100
SSTFKLKSEV NKHETALEMQ NPNLNNKECC FTFTLNGNSR KLDRSVFTAY
110 120 130 140 150
GKPSESIYSA LSANDYFSER IKNQFNKNII VYEEKTIDGH INLGMPLKCL
160 170 180 190 200
PSDSHFKITF GQRKSSKEDG HILRQCENPN MECILFHVVA IGRTRKKIVK
210 220 230 240 250
INELHEKGSK LCIYALKGET IEGALCKDGR FRSDIGEFEW KLKEGHKKIY
260 270 280 290 300
GKQSMVDEVS GKVLEMDISK KKALQQKDIH KKIKQNESAT DEINHQSLIQ
310 320 330 340 350
SKKKVHKPKK DGETKDVEHS REQILPPQDL SHYIKDKTRQ TIPRIRNYYF
360 370 380 390 400
CSLPRKYRQI NSQVRRRPHL GRRYAINLDV QKEAINLLKN YQTLNEAIMH
410 420 430 440 450
QYPNFKEEAQ WVRKYFREEQ KRMNLSPAKQ FNIYKKDFGK MTANSVSVAT
460 470 480 490 500
CEQLTYYSKS VGFMQWDNNG NTGNATCFVF NGGYIFTCRH VVHLMVGKNT
510 520 530 540 550
HPSLWPDIIS KCAKVTFTYT EFCPTPDNWF SIEPWLKVSN ENLDYAILKL
560 570 580 590 600
KENGNAFPPG LWRQISPQPS TGLIYLIGHP EGQIKKIDGC TVIPLNERLK
610 620 630 640 650
KYPNDCQDGL VDLYDTTSNV YCMFTQRSFL SEVWNTHTLS YDTCFSDGSS
660 670 680 690 700
GSPVFNASGK LVALHTFGLF YQRGFNVHAL IEFGYSMDSI LCDIKKTNES
710 720 730
LYKSLNDEKL ETYDEEKGKQ ESSLQDHQIE PMEC
Length:734
Mass (Da):84,674
Last modified:July 5, 2004 - v1
Checksum:i5CDDF963849CE433
GO
Isoform 2 (identifier: Q6SJ93-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.

Show »
Length:704
Mass (Da):81,201
Checksum:i2D47981D619449C9
GO

Sequence cautioni

The sequence AAH62456.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti104 – 1041S → G in AAH62456 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti218 – 2181G → D.
Corresponds to variant rs1060428 [ dbSNP | Ensembl ].
VAR_053821
Natural varianti621 – 6211Y → D in POIKTMP. 1 Publication
VAR_070953
Natural varianti627 – 6271R → G in POIKTMP. 1 Publication
VAR_070954
Natural varianti628 – 6281S → N in POIKTMP. 1 Publication
VAR_070955
Natural varianti731 – 7311P → A.
Corresponds to variant rs17153376 [ dbSNP | Ensembl ].
VAR_030282

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3030Missing in isoform 2. 1 PublicationVSP_022739Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY457926 mRNA. Translation: AAR20839.1.
AK304258 mRNA. Translation: BAG65124.1.
BC062456 mRNA. Translation: AAH62456.1. Sequence problems.
BC130513 mRNA. Translation: AAI30514.1.
BC130539 mRNA. Translation: AAI30540.1.
CCDSiCCDS44611.1. [Q6SJ93-2]
CCDS7972.1. [Q6SJ93-1]
RefSeqiNP_001136175.1. NM_001142703.1. [Q6SJ93-2]
NP_001136176.1. NM_001142704.1. [Q6SJ93-2]
NP_945185.1. NM_198947.3. [Q6SJ93-1]
UniGeneiHs.186579.

Genome annotation databases

EnsembliENST00000343597; ENSP00000341565; ENSG00000189057. [Q6SJ93-1]
ENST00000411426; ENSP00000393855; ENSG00000189057. [Q6SJ93-2]
ENST00000529618; ENSP00000432875; ENSG00000189057. [Q6SJ93-2]
ENST00000620384; ENSP00000483456; ENSG00000189057. [Q6SJ93-1]
GeneIDi374393.
KEGGihsa:374393.
UCSCiuc001nnl.5. human. [Q6SJ93-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY457926 mRNA. Translation: AAR20839.1.
AK304258 mRNA. Translation: BAG65124.1.
BC062456 mRNA. Translation: AAH62456.1. Sequence problems.
BC130513 mRNA. Translation: AAI30514.1.
BC130539 mRNA. Translation: AAI30540.1.
CCDSiCCDS44611.1. [Q6SJ93-2]
CCDS7972.1. [Q6SJ93-1]
RefSeqiNP_001136175.1. NM_001142703.1. [Q6SJ93-2]
NP_001136176.1. NM_001142704.1. [Q6SJ93-2]
NP_945185.1. NM_198947.3. [Q6SJ93-1]
UniGeneiHs.186579.

3D structure databases

ProteinModelPortaliQ6SJ93.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131897. 13 interactions.
IntActiQ6SJ93. 10 interactions.
STRINGi9606.ENSP00000341565.

PTM databases

iPTMnetiQ6SJ93.
PhosphoSiteiQ6SJ93.

Polymorphism and mutation databases

BioMutaiFAM111B.
DMDMi74758524.

Proteomic databases

EPDiQ6SJ93.
MaxQBiQ6SJ93.
PaxDbiQ6SJ93.
PRIDEiQ6SJ93.

Protocols and materials databases

DNASUi374393.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343597; ENSP00000341565; ENSG00000189057. [Q6SJ93-1]
ENST00000411426; ENSP00000393855; ENSG00000189057. [Q6SJ93-2]
ENST00000529618; ENSP00000432875; ENSG00000189057. [Q6SJ93-2]
ENST00000620384; ENSP00000483456; ENSG00000189057. [Q6SJ93-1]
GeneIDi374393.
KEGGihsa:374393.
UCSCiuc001nnl.5. human. [Q6SJ93-1]

Organism-specific databases

CTDi374393.
GeneCardsiFAM111B.
HGNCiHGNC:24200. FAM111B.
HPAiHPA038637.
MalaCardsiFAM111B.
MIMi615584. gene.
615704. phenotype.
neXtProtiNX_Q6SJ93.
Orphaneti221043. Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.
PharmGKBiPA143485469.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHAZ. Eukaryota.
ENOG4112AWX. LUCA.
GeneTreeiENSGT00390000005182.
HOGENOMiHOG000112429.
HOVERGENiHBG081495.
InParanoidiQ6SJ93.
OMAiGYIFTCR.
OrthoDBiEOG7CRTRF.
PhylomeDBiQ6SJ93.
TreeFamiTF332538.

Miscellaneous databases

GenomeRNAii374393.
NextBioi100174.
PROiQ6SJ93.
SOURCEiSearch...

Gene expression databases

BgeeiQ6SJ93.
CleanExiHS_FAM111B.
ExpressionAtlasiQ6SJ93. baseline and differential.
GenevisibleiQ6SJ93. HS.

Family and domain databases

InterProiIPR009003. Peptidase_S1_PA.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization and cloning of a cancer associated nucleoprotein in hepatocellular carcinoma."
    Liu S.-H., Pan H.-W., Hsu H.-C.
    Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "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).
    Tissue: Trachea.
  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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-270 (ISOFORM 2).
    Tissue: Testis.
  4. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. Cited for: VARIANTS POIKTMP ASP-621; GLY-627 AND ASN-628, TISSUE SPECIFICITY.

Entry informationi

Entry nameiF111B_HUMAN
AccessioniPrimary (citable) accession number: Q6SJ93
Secondary accession number(s): B4E2G2, Q6P661
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: July 5, 2004
Last modified: April 13, 2016
This is version 89 of the entry and version 1 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 11
    Human chromosome 11: 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

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.