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Protein

Protein FAM193A

Gene

FAM193A

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 FAM193A
Alternative name(s):
Protein IT14
Gene namesi
Name:FAM193A
Synonyms:C4orf8
ORF Names:RES4-22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:16822. FAM193A.

Pathology & Biotechi

Organism-specific databases

DisGeNETi8603.
OpenTargetsiENSG00000125386.
PharmGKBiPA165663979.

Polymorphism and mutation databases

BioMutaiFAM193A.
DMDMi71152365.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894301 – 1265Protein FAM193AAdd BLAST1265

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei293PhosphoserineBy similarity1
Modified residuei383PhosphoserineCombined sources1
Modified residuei642PhosphoserineCombined sources1
Modified residuei1129PhosphoserineCombined sources1
Modified residuei1144PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP78312.
PaxDbiP78312.
PeptideAtlasiP78312.
PRIDEiP78312.

PTM databases

iPTMnetiP78312.
PhosphoSitePlusiP78312.

Expressioni

Gene expression databases

BgeeiENSG00000125386.
CleanExiHS_C4orf8.
ExpressionAtlasiP78312. baseline and differential.
GenevisibleiP78312. HS.

Organism-specific databases

HPAiHPA043116.

Interactioni

Protein-protein interaction databases

BioGridi114163. 2 interactors.
IntActiP78312. 3 interactors.
STRINGi9606.ENSP00000372290.

Structurei

3D structure databases

ProteinModelPortaliP78312.
SMRiP78312.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili107 – 142Sequence analysisAdd BLAST36
Coiled coili873 – 932Sequence analysisAdd BLAST60
Coiled coili1093 – 1118Sequence analysisAdd BLAST26

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi347 – 354Poly-Ser8
Compositional biasi880 – 920Glu-richAdd BLAST41
Compositional biasi934 – 938Poly-Lys5
Compositional biasi1148 – 1158Poly-LysAdd BLAST11

Sequence similaritiesi

Belongs to the FAM193 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEE8. Eukaryota.
ENOG410ZQD4. LUCA.
GeneTreeiENSGT00390000000973.
HOGENOMiHOG000090198.
HOVERGENiHBG081059.
InParanoidiP78312.
OMAiSIXDVFL.
OrthoDBiEOG091G18G8.
PhylomeDBiP78312.
TreeFamiTF330223.

Family and domain databases

InterProiIPR029717. FAM193.
IPR031802. FAM193_C.
IPR029719. FAM193A.
[Graphical view]
PANTHERiPTHR15109. PTHR15109. 1 hit.
PTHR15109:SF2. PTHR15109:SF2. 1 hit.
PfamiPF15914. FAM193_C. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P78312-1) [UniParc]FASTAAdd to basket
Also known as: RES4-22B

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
MKVRLLRQLS AAAKVKAPSG LQGPPQAHQF ISLLLEEYGA LCQAARSIST
60 70 80 90 100
FLGTLENEHL KKFQVTWELH NKHLFENLVF SEPLLQSNLP ALVSQIRLGT
110 120 130 140 150
TTHDTCSEDT YSTLLQRYQR SEEELRRVAE EWLECQKRID AYVDEQMTMK
160 170 180 190 200
TKQRMLTEDW ELFKQRRFIE EQLTNKKAVT GENNFTDTMR HMLSSRLSMP
210 220 230 240 250
DCPNCNYRRR CACDDCSLSH ILTCGIMDPP VTDDIHIHQL PLQVDPAPDY
260 270 280 290 300
LAERSPPSVS SASSGSGSSS PITIQQHPRL ILTDSGSAPT FCSDDEDVAP
310 320 330 340 350
LSAKFADIYP LSNYDDTEVV ANMNGIHSEL NGGGENMALK DESPQISSTS
360 370 380 390 400
SSSSEADDEE ADGESSGEPP GAPKEDGVLG SRSPRTEESK ADSPPPSYPT
410 420 430 440 450
QQAEQAPNTC ECHVCKQEAS GLTPSAMTAG ALPPGHQFLS PEKPTHPALH
460 470 480 490 500
LYPHIHGHVP LHTVPHLPRP LIHPTLYATP PFTHSKALPP APVQNHTNKH
510 520 530 540 550
QVFNASLQDH IYPSCFGNTP EWNSSKFISL WGSEVMNDKN WNPGTFLPDT
560 570 580 590 600
ISGSEILGPT LSETRPEALP PPSSNETPAV SDSKEKKNAA KKKCLYNFQD
610 620 630 640 650
AFMEANKVVM ATSSATSSVS CTATTVQSSN SQFRVSSKRP PSVGDVFHGI
660 670 680 690 700
SKEDHRHSAP AAPRNSPTGL APLPALSPAA LSPAALSPAS TPHLANLAAP
710 720 730 740 750
SFPKTATTTP GFVDTRKSFC PAPLPPATDG SISAPPSVCS DPDCEGHRCE
760 770 780 790 800
NGVYDPQQDD GDESADEDSC SEHSSSTSTS TNQKEGKYCD CCYCEFFGHG
810 820 830 840 850
GPPAAPTSRN YAEMREKLRL RLTKRKEEQP KKMDQISERE SVVDHRRVED
860 870 880 890 900
LLQFINSSET KPVSSTRAAK RARHKQRKLE EKARLEAEAR AREHLHLQEE
910 920 930 940 950
QRRREEEEDE EEEEDRFKEE FQRLQELQKL RAVKKKKKER PSKDCPKLDM
960 970 980 990 1000
LTRNFQAATE SVPNSGNIHN GSLEQTEEPE TSSHSPSRHM NHSEPRPGLG
1010 1020 1030 1040 1050
ADGDAADPVD TRDSKFLLPK EVNGKQHEPL SFFFDIMQHH KEGNGKQKLR
1060 1070 1080 1090 1100
QTSKASSEPA RRPTEPPKAT EGQSKPRAQT ESKAKVVDLM SITEQKREER
1110 1120 1130 1140 1150
KVNSNNNNKK QLNHIKDEKS NPTPMEPTSP GEHQQNSKLV LAESPQPKGK
1160 1170 1180 1190 1200
NKKNKKKKGD RVNNSIDGVS LLLPSLGYNG AILAHCNLRL PGSSDCAASA
1210 1220 1230 1240 1250
SQVVGITDDV FLPKDIDLDS VDMDETEREV EYFKRFCLDS ARQTRQRLSI
1260
NWSNFSLKKA TFAAH
Length:1,265
Mass (Da):139,988
Last modified:July 19, 2005 - v2
Checksum:i6B4EDD55B49AC9EE
GO
Isoform 2 (identifier: P78312-2) [UniParc]FASTAAdd to basket
Also known as: RES4-22A

The sequence of this isoform differs from the canonical sequence as follows:
     1167-1207: Missing.

Show »
Length:1,224
Mass (Da):135,964
Checksum:i19D359B7F14E9C55
GO
Isoform 3 (identifier: P78312-3) [UniParc]FASTAAdd to basket
Also known as: RES4-22C

The sequence of this isoform differs from the canonical sequence as follows:
     786-792: GKYCDCC → ASSCTNK
     793-1265: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:792
Mass (Da):85,882
Checksum:iFA793B32D2EAE871
GO
Isoform 4 (identifier: P78312-4) [UniParc]FASTAAdd to basket
Also known as: RES4-22D

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Show »
Length:1,119
Mass (Da):123,237
Checksum:i842B5165FB165C19
GO
Isoform 5 (identifier: P78312-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-146: Q → QDLQTSVNKSIDTGTLVQSWLRGAA
     292-293: Missing.
     1167-1207: Missing.

Note: No experimental confirmation available.
Show »
Length:1,246
Mass (Da):138,317
Checksum:iDBB79CF295CF8217
GO
Isoform 6 (identifier: P78312-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1167-1207: Missing.
     1236-1265: FCLDSARQTRQRLSINWSNFSLKKATFAAH → DGVSPHCPGWSRTPGLK

Show »
Length:1,211
Mass (Da):134,260
Checksum:iA1F5AD29AC439C0D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022863192M → V.1 PublicationCorresponds to variant rs17164077dbSNPEnsembl.1
Natural variantiVAR_0567831115I → V.1 PublicationCorresponds to variant rs17681870dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0146141 – 146Missing in isoform 4. 2 PublicationsAdd BLAST146
Alternative sequenceiVSP_045574146Q → QDLQTSVNKSIDTGTLVQSW LRGAA in isoform 5. 1 Publication1
Alternative sequenceiVSP_045575292 – 293Missing in isoform 5. 1 Publication2
Alternative sequenceiVSP_014616786 – 792GKYCDCC → ASSCTNK in isoform 3. 1 Publication7
Alternative sequenceiVSP_014617793 – 1265Missing in isoform 3. 1 PublicationAdd BLAST473
Alternative sequenceiVSP_0146151167 – 1207Missing in isoform 2, isoform 5 and isoform 6. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_0471631236 – 1265FCLDS…TFAAH → DGVSPHCPGWSRTPGLK in isoform 6. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB000459 mRNA. Translation: BAA19116.1.
AB000460 mRNA. Translation: BAA19117.1.
AB000461 mRNA. Translation: BAA19118.1. Sequence problems.
AB001563 mRNA. Translation: BAA31858.1.
AL110117 Genomic DNA. No translation available.
BC136646 mRNA. Translation: AAI36647.1.
BC144340 mRNA. Translation: AAI44341.1.
AF040966 mRNA. Translation: AAB97012.1.
CCDSiCCDS33943.1. [P78312-2]
CCDS58874.1. [P78312-5]
CCDS58875.1. [P78312-1]
CCDS58876.1. [P78312-6]
RefSeqiNP_001243595.1. NM_001256666.1. [P78312-1]
NP_001243596.1. NM_001256667.1. [P78312-5]
NP_001243597.1. NM_001256668.1. [P78312-6]
NP_003695.3. NM_003704.3. [P78312-2]
XP_006713993.2. XM_006713930.2. [P78312-2]
UniGeneiHs.652364.

Genome annotation databases

EnsembliENST00000324666; ENSP00000324587; ENSG00000125386. [P78312-1]
ENST00000382839; ENSP00000372290; ENSG00000125386. [P78312-2]
ENST00000502458; ENSP00000427505; ENSG00000125386. [P78312-5]
ENST00000505311; ENSP00000421200; ENSG00000125386. [P78312-6]
ENST00000512465; ENSP00000423852; ENSG00000125386. [P78312-3]
ENST00000545951; ENSP00000443617; ENSG00000125386. [P78312-6]
GeneIDi8603.
KEGGihsa:8603.
UCSCiuc003gfd.4. human. [P78312-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB000459 mRNA. Translation: BAA19116.1.
AB000460 mRNA. Translation: BAA19117.1.
AB000461 mRNA. Translation: BAA19118.1. Sequence problems.
AB001563 mRNA. Translation: BAA31858.1.
AL110117 Genomic DNA. No translation available.
BC136646 mRNA. Translation: AAI36647.1.
BC144340 mRNA. Translation: AAI44341.1.
AF040966 mRNA. Translation: AAB97012.1.
CCDSiCCDS33943.1. [P78312-2]
CCDS58874.1. [P78312-5]
CCDS58875.1. [P78312-1]
CCDS58876.1. [P78312-6]
RefSeqiNP_001243595.1. NM_001256666.1. [P78312-1]
NP_001243596.1. NM_001256667.1. [P78312-5]
NP_001243597.1. NM_001256668.1. [P78312-6]
NP_003695.3. NM_003704.3. [P78312-2]
XP_006713993.2. XM_006713930.2. [P78312-2]
UniGeneiHs.652364.

3D structure databases

ProteinModelPortaliP78312.
SMRiP78312.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114163. 2 interactors.
IntActiP78312. 3 interactors.
STRINGi9606.ENSP00000372290.

PTM databases

iPTMnetiP78312.
PhosphoSitePlusiP78312.

Polymorphism and mutation databases

BioMutaiFAM193A.
DMDMi71152365.

Proteomic databases

MaxQBiP78312.
PaxDbiP78312.
PeptideAtlasiP78312.
PRIDEiP78312.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324666; ENSP00000324587; ENSG00000125386. [P78312-1]
ENST00000382839; ENSP00000372290; ENSG00000125386. [P78312-2]
ENST00000502458; ENSP00000427505; ENSG00000125386. [P78312-5]
ENST00000505311; ENSP00000421200; ENSG00000125386. [P78312-6]
ENST00000512465; ENSP00000423852; ENSG00000125386. [P78312-3]
ENST00000545951; ENSP00000443617; ENSG00000125386. [P78312-6]
GeneIDi8603.
KEGGihsa:8603.
UCSCiuc003gfd.4. human. [P78312-1]

Organism-specific databases

CTDi8603.
DisGeNETi8603.
GeneCardsiFAM193A.
HGNCiHGNC:16822. FAM193A.
HPAiHPA043116.
neXtProtiNX_P78312.
OpenTargetsiENSG00000125386.
PharmGKBiPA165663979.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEE8. Eukaryota.
ENOG410ZQD4. LUCA.
GeneTreeiENSGT00390000000973.
HOGENOMiHOG000090198.
HOVERGENiHBG081059.
InParanoidiP78312.
OMAiSIXDVFL.
OrthoDBiEOG091G18G8.
PhylomeDBiP78312.
TreeFamiTF330223.

Miscellaneous databases

ChiTaRSiFAM193A. human.
GeneWikiiFAM193A.
GenomeRNAii8603.
PROiP78312.

Gene expression databases

BgeeiENSG00000125386.
CleanExiHS_C4orf8.
ExpressionAtlasiP78312. baseline and differential.
GenevisibleiP78312. HS.

Family and domain databases

InterProiIPR029717. FAM193.
IPR031802. FAM193_C.
IPR029719. FAM193A.
[Graphical view]
PANTHERiPTHR15109. PTHR15109. 1 hit.
PTHR15109:SF2. PTHR15109:SF2. 1 hit.
PfamiPF15914. FAM193_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiF193A_HUMAN
AccessioniPrimary (citable) accession number: P78312
Secondary accession number(s): B7ZM85
, B9EGR0, E9PFA1, O43607, P78311, P78313, Q9UEG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: November 30, 2016
This is version 112 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 4
    Human chromosome 4: 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. 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.