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Protein

Protein FAM193B

Gene

FAM193B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146067-MONOMER.
SignaLinkiQ96PV7.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM193B
Gene namesi
Name:FAM193B
Synonyms:IRIZIO, KIAA1931
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:25524. FAM193B.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi54540.
OpenTargetsiENSG00000146067.
PharmGKBiPA165660336.

Polymorphism and mutation databases

DMDMi519668676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003444571 – 902Protein FAM193BAdd BLAST902

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei773PhosphoserineBy similarity1
Modified residuei785PhosphoserineCombined sources1
Modified residuei892PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96PV7.
MaxQBiQ96PV7.
PaxDbiQ96PV7.
PeptideAtlasiQ96PV7.
PRIDEiQ96PV7.

PTM databases

iPTMnetiQ96PV7.
PhosphoSitePlusiQ96PV7.
SwissPalmiQ96PV7.

Expressioni

Tissue specificityi

Isoform 1 is up-regulated in both embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma cell lines.1 Publication

Gene expression databases

BgeeiENSG00000146067.
ExpressionAtlasiQ96PV7. baseline and differential.
GenevisibleiQ96PV7. HS.

Organism-specific databases

HPAiHPA035848.
HPA058112.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-10292648,EBI-618309
TRIM23P364063EBI-10292648,EBI-740098
TRIM27P143733EBI-10292648,EBI-719493

Protein-protein interaction databases

BioGridi120027. 16 interactors.
IntActiQ96PV7. 7 interactors.
MINTiMINT-1471103.
STRINGi9606.ENSP00000422131.

Structurei

3D structure databases

ProteinModelPortaliQ96PV7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili490 – 524Sequence analysisAdd BLAST35

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi153 – 224Ser-richAdd BLAST72
Compositional biasi225 – 355Pro-richAdd BLAST131

Sequence similaritiesi

Belongs to the FAM193 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGY3. Eukaryota.
ENOG4111D43. LUCA.
GeneTreeiENSGT00390000000973.
HOGENOMiHOG000060326.
HOVERGENiHBG108049.
InParanoidiQ96PV7.
OMAiWNSPHSS.
OrthoDBiEOG091G04AF.
TreeFamiTF330223.

Family and domain databases

InterProiIPR029717. FAM193.
IPR031802. FAM193_C.
IPR029722. FAM193B.
[Graphical view]
PANTHERiPTHR15109. PTHR15109. 1 hit.
PTHR15109:SF3. PTHR15109:SF3. 1 hit.
PfamiPF15914. FAM193_C. 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: Q96PV7-1) [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
MTRRRSRPSG GAGRRERARA AGPQKPQAPE PPPPPSLEAG AGAGPPEAPA
60 70 80 90 100
EPDHDGPRED DEPNLVPGPQ VPPASSQPVQ TCCLLCHRER KGWEEGPSQN
110 120 130 140 150
GLVLQGEKLP PDFMPKLVKN LLGEMPLWVC QSCRKSMEED ERQTGREHAV
160 170 180 190 200
AISLSHTSCK SQSCGDDSHS SSSSSSSSSS SSSSSCPGNS GDWDPSSFLS
210 220 230 240 250
AHKLSGLWNS PHSSGAMPGS SLGSPPTIPG EAFPVSEHHQ HSDLTAPPNS
260 270 280 290 300
PTGHHPQPAS LIPSHPSSFG SPPHPHLLPT TPAAPFPAQA SECPVAAATA
310 320 330 340 350
PHTPGPCQSS HLPSTSMPLL KMPPPFSGCS HPCSGHCGGH CSGPLLPPPS
360 370 380 390 400
SQPLPSTHRD PGCKGHKFAH SGLACQLPQP CEADEGLGEE EDSSSERSSC
410 420 430 440 450
TSSSTHQRDG KFCDCCYCEF FGHNAPPAAP TSRNYTEIRE KLRSRLTRRK
460 470 480 490 500
EELPMKGGTL GGIPGEPAVD HRDVDELLEF INSTEPKVPN SARAAKRARH
510 520 530 540 550
KLKKKEKEKA QLAAEALKQA NRVSGSREPR PARERLLEWP DRELDRVNSF
560 570 580 590 600
LSSRLQEIKN TVKDSIRASF SVCELSMDSN GFSKEGAAEP EPQSLPPSNL
610 620 630 640 650
SGSSEQQPDI NLDLSPLTLG SPQNHTLQAP GEPAPPWAEM RGPHPPWTEV
660 670 680 690 700
RGPPPGIVPE NGLVRRLNTV PNLSRVIWVK TPKPGYPSSE EPSSKEVPSC
710 720 730 740 750
KQELPEPVSS GGKPQKGKRQ GSQAKKSEAS PAPRPPASLE VPSAKGQVAG
760 770 780 790 800
PKQPGRVLEL PKVGSCAEAG EGSRGSRPGP GWAGSPKTEK EKGSSWRNWP
810 820 830 840 850
GEAKARPQEQ ESVQPSGPAR PQSLPQGKGR SRRSRNKQEK PASSLDDVFL
860 870 880 890 900
PKDMDGVEMD ETDREVEYFK RFCLDSAKQT RQKVAVNWTN FSLKKTTPST

AQ
Length:902
Mass (Da):96,543
Last modified:June 26, 2013 - v3
Checksum:i584AF8E0C8F8DF74
GO
Isoform 2 (identifier: Q96PV7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-454: Missing.

Show »
Length:448
Mass (Da):48,767
Checksum:i93A459EB3786A876
GO
Isoform 3 (identifier: Q96PV7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     426-505: Missing.

Note: Gene prediction based on EST data.
Show »
Length:822
Mass (Da):87,548
Checksum:i8FA394CAE3BE417B
GO

Sequence cautioni

The sequence BAB67824 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045619816S → P.5 PublicationsCorresponds to variant rs337382dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0347801 – 454Missing in isoform 2. 4 PublicationsAdd BLAST454
Alternative sequenceiVSP_047164426 – 505Missing in isoform 3. 1 PublicationAdd BLAST80

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067518 mRNA. Translation: BAB67824.1. Different initiation.
AK001266 mRNA. Translation: BAA91589.1.
BX647587 mRNA. Translation: CAI46078.1.
AC145098 Genomic DNA. No translation available.
AC139795 Genomic DNA. No translation available.
CH471195 Genomic DNA. Translation: EAW84969.1.
BC008784 mRNA. Translation: AAH08784.1.
CCDSiCCDS54954.1. [Q96PV7-3]
RefSeqiXP_006714938.1. XM_006714875.2. [Q96PV7-1]
XP_006714947.1. XM_006714884.1. [Q96PV7-2]
XP_006714948.1. XM_006714885.1. [Q96PV7-2]
XP_011532884.1. XM_011534582.1. [Q96PV7-2]
XP_011532885.1. XM_011534583.1. [Q96PV7-2]
UniGeneiHs.484289.

Genome annotation databases

EnsembliENST00000514747; ENSP00000422131; ENSG00000146067. [Q96PV7-3]
GeneIDi54540.
UCSCiuc003mhu.4. human. [Q96PV7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067518 mRNA. Translation: BAB67824.1. Different initiation.
AK001266 mRNA. Translation: BAA91589.1.
BX647587 mRNA. Translation: CAI46078.1.
AC145098 Genomic DNA. No translation available.
AC139795 Genomic DNA. No translation available.
CH471195 Genomic DNA. Translation: EAW84969.1.
BC008784 mRNA. Translation: AAH08784.1.
CCDSiCCDS54954.1. [Q96PV7-3]
RefSeqiXP_006714938.1. XM_006714875.2. [Q96PV7-1]
XP_006714947.1. XM_006714884.1. [Q96PV7-2]
XP_006714948.1. XM_006714885.1. [Q96PV7-2]
XP_011532884.1. XM_011534582.1. [Q96PV7-2]
XP_011532885.1. XM_011534583.1. [Q96PV7-2]
UniGeneiHs.484289.

3D structure databases

ProteinModelPortaliQ96PV7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120027. 16 interactors.
IntActiQ96PV7. 7 interactors.
MINTiMINT-1471103.
STRINGi9606.ENSP00000422131.

PTM databases

iPTMnetiQ96PV7.
PhosphoSitePlusiQ96PV7.
SwissPalmiQ96PV7.

Polymorphism and mutation databases

DMDMi519668676.

Proteomic databases

EPDiQ96PV7.
MaxQBiQ96PV7.
PaxDbiQ96PV7.
PeptideAtlasiQ96PV7.
PRIDEiQ96PV7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000514747; ENSP00000422131; ENSG00000146067. [Q96PV7-3]
GeneIDi54540.
UCSCiuc003mhu.4. human. [Q96PV7-1]

Organism-specific databases

CTDi54540.
DisGeNETi54540.
GeneCardsiFAM193B.
H-InvDBHIX0200715.
HGNCiHGNC:25524. FAM193B.
HPAiHPA035848.
HPA058112.
MIMi615813. gene.
neXtProtiNX_Q96PV7.
OpenTargetsiENSG00000146067.
PharmGKBiPA165660336.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGY3. Eukaryota.
ENOG4111D43. LUCA.
GeneTreeiENSGT00390000000973.
HOGENOMiHOG000060326.
HOVERGENiHBG108049.
InParanoidiQ96PV7.
OMAiWNSPHSS.
OrthoDBiEOG091G04AF.
TreeFamiTF330223.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146067-MONOMER.
SignaLinkiQ96PV7.

Miscellaneous databases

ChiTaRSiFAM193B. human.
GenomeRNAii54540.
PROiQ96PV7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146067.
ExpressionAtlasiQ96PV7. baseline and differential.
GenevisibleiQ96PV7. HS.

Family and domain databases

InterProiIPR029717. FAM193.
IPR031802. FAM193_C.
IPR029722. FAM193B.
[Graphical view]
PANTHERiPTHR15109. PTHR15109. 1 hit.
PTHR15109:SF3. PTHR15109:SF3. 1 hit.
PfamiPF15914. FAM193_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiF193B_HUMAN
AccessioniPrimary (citable) accession number: Q96PV7
Secondary accession number(s): E9PET5, Q9NW00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: June 26, 2013
Last modified: November 2, 2016
This is version 97 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 5
    Human chromosome 5: 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.