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Protein

Protein FAM193B

Gene

FAM193B

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

Functioni

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000146067.15
HGNCiHGNC:25524 FAM193B
MIMi615813 gene
neXtProtiNX_Q96PV7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi77777
77778 [Q96PV7-2]

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 Expressed in 223 organ(s), highest expression level in myometrium
ExpressionAtlasiQ96PV7 baseline and differential
GenevisibleiQ96PV7 HS

Organism-specific databases

HPAiHPA035848
HPA058112

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi120027, 18 interactors
IntActiQ96PV7, 9 interactors
MINTiQ96PV7
STRINGi9606.ENSP00000422131

Structurei

3D structure databases

ProteinModelPortaliQ96PV7
SMRiQ96PV7
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
OMAiEHHRHSD
OrthoDBiEOG091G04AF
TreeFamiTF330223

Family and domain databases

InterProiView protein in InterPro
IPR029717 FAM193
IPR031802 FAM193_C
IPR029722 FAM193B
PANTHERiPTHR15109 PTHR15109, 1 hit
PTHR15109:SF3 PTHR15109:SF3, 1 hit
PfamiView protein in Pfam
PF15914 FAM193_C, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCX2H0YCX2_HUMAN
Protein FAM193B
FAM193B
508Annotation score:
H0Y9G1H0Y9G1_HUMAN
Protein FAM193B
FAM193B
139Annotation score:
D6RAX9D6RAX9_HUMAN
Protein FAM193B
FAM193B
78Annotation score:
D6REE6D6REE6_HUMAN
Protein FAM193B
FAM193B
120Annotation score:
D6RC29D6RC29_HUMAN
Protein FAM193B
FAM193B
72Annotation score:
D6RDZ2D6RDZ2_HUMAN
Protein FAM193B
FAM193B
45Annotation score:
H0Y9W8H0Y9W8_HUMAN
Protein FAM193B
FAM193B
108Annotation score:
H0Y9D3H0Y9D3_HUMAN
Protein FAM193B
FAM193B
30Annotation score:
D6REQ2D6REQ2_HUMAN
Protein FAM193B
FAM193B
142Annotation score:
H0Y9J9H0Y9J9_HUMAN
Protein FAM193B
FAM193B
73Annotation score:

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045619816S → P5 PublicationsCorresponds to variant dbSNP:rs337382Ensembl.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
XP_006714948.1, XM_006714885.1 [Q96PV7-2]
XP_011532884.1, XM_011534582.1
XP_011532885.1, XM_011534583.1
UniGeneiHs.484289

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
XP_006714948.1, XM_006714885.1 [Q96PV7-2]
XP_011532884.1, XM_011534582.1
XP_011532885.1, XM_011534583.1
UniGeneiHs.484289

3D structure databases

ProteinModelPortaliQ96PV7
SMRiQ96PV7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120027, 18 interactors
IntActiQ96PV7, 9 interactors
MINTiQ96PV7
STRINGi9606.ENSP00000422131

PTM databases

iPTMnetiQ96PV7
PhosphoSitePlusiQ96PV7
SwissPalmiQ96PV7

Polymorphism and mutation databases

DMDMi519668676

Proteomic databases

EPDiQ96PV7
MaxQBiQ96PV7
PaxDbiQ96PV7
PeptideAtlasiQ96PV7
PRIDEiQ96PV7
ProteomicsDBi77777
77778 [Q96PV7-2]

Protocols and materials databases

DNASUi54540
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi54540
DisGeNETi54540
EuPathDBiHostDB:ENSG00000146067.15
GeneCardsiFAM193B
H-InvDBiHIX0200715
HGNCiHGNC:25524 FAM193B
HPAiHPA035848
HPA058112
MIMi615813 gene
neXtProtiNX_Q96PV7
OpenTargetsiENSG00000146067
PharmGKBiPA165660336
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGY3 Eukaryota
ENOG4111D43 LUCA
GeneTreeiENSGT00390000000973
HOGENOMiHOG000060326
HOVERGENiHBG108049
InParanoidiQ96PV7
OMAiEHHRHSD
OrthoDBiEOG091G04AF
TreeFamiTF330223

Enzyme and pathway databases

SignaLinkiQ96PV7

Miscellaneous databases

ChiTaRSiFAM193B human
GenomeRNAii54540
PROiPR:Q96PV7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146067 Expressed in 223 organ(s), highest expression level in myometrium
ExpressionAtlasiQ96PV7 baseline and differential
GenevisibleiQ96PV7 HS

Family and domain databases

InterProiView protein in InterPro
IPR029717 FAM193
IPR031802 FAM193_C
IPR029722 FAM193B
PANTHERiPTHR15109 PTHR15109, 1 hit
PTHR15109:SF3 PTHR15109:SF3, 1 hit
PfamiView protein in Pfam
PF15914 FAM193_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiF193B_HUMAN
AccessioniPrimary (citable) accession number: Q96PV7
Secondary accession number(s): E9PET5, Q9NW00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: June 26, 2013
Last modified: November 7, 2018
This is version 109 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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