FAM50A - family with sequence similarity 50 member A Gene

Also Known as 9F; XAP5; HXC26; MRXSA; HXC-26; DXS9928E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9130

About FAM50A

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,444,141-154,450,654 (from NCBI)

This gene has 7 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 32.0), placenta (RPKM 25.3) and 25 other tissues.

Summary

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]

FAM50A Products (1)

mRNA	Protein	Name
NM_004699.4	NP_004690.1	protein FAM50A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32703943	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of RNA splicing	IMP IMP: Inferred from mutant phenotype	32703943	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	32703943	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM50A Protein Structure

XAP5

0
100
200
300
339 a.a.

Protein Preferred Names	Protein Names
protein FAM50A	protein XAP-5

FAM50A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83054	FAM50A Antibody (YA2799)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P83054A	FAM50A Antibody (YA2799)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat, Hamster

Related Diseases

Diseases	Alias
Armfield Syndrome	X-Linked Intellectual Disability, Armfield Type Armfield X-Linked Mental Retardation Syndrome Mental Retardation Syndrome, X-Linked, Armfield Type Mrxsa Syndromic X-Linked Mental Retardation Armfield Type
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Armfield X-Linked Mental Retardation Syndrome MRXSA
Arboleda-Tham Syndrome	Kat6a Syndrome Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome ARTHS Mrd32 Mental Retardation, Autosomal Dominant 32, Formerly Mrd32, Formerly Autosomal Dominant Mental Retardation 32 Autosomal Dominant Non-Syndromic Intellectual Disability 32 Arboleda-Tham
Deafness, Autosomal Recessive 109	DFNB109 Autosomal Recessive Nonsyndromic Deafness 109 Autosomal Recessive Deafness 109 Deafness, Autosomal Recessive, 109
Dystonia 16	DYT16 Dyt-Prkra Dystonia-16 Young-Onset Dystonia- Early-Onset Dystonia Parkinsonism Dystonia, Type 16
Developmental And Epileptic Encephalopathy 54	DEE54 Epileptic Encephalopathy, Early Infantile, 54 Eiee54 Developmental And Epileptic Encephalopathy, 54 Early Infantile Epileptic Encephalopathy 54 Encephalopathy, Epileptic, Early Infantile, Type 54
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Glutathione Synthetase Deficiency	5-Oxoprolinuria Pyroglutamic Aciduria Pyroglutamicaciduria Glutathione Synthetase Deficiency With 5-Oxoprolinuria GSSD Oxoprolinase Deficiency 5-Oxoprolinemia Deficiency Of Glutathione Synthase Deficiency Of Glutathione Synthetase Pyroglutamic Acidemia GSS DEFICIENCY Gluthathione Synthetase Deficiency 5-Oxoprolinase Deficiency
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Syndromic X-Linked Intellectual Disability Shashi Type	Mental Retardation, X-Linked, Syndromic 11, Shashi Type Mrxs11 Shashi X-Linked Mental Retardation Syndrome Smrxs Syndromic X-Linked Intellectual Disability Type 11 X-Linked Mental Retardation Shashi Type Mental Retardation, X-Linked, Syndromic 11
Miles-Carpenter Syndrome	X-Linked Intellectual Disability, Miles-Carpenter Type Mcs Mental Retardation, X-Linked, Syndromic 4 Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches Mrxs4 Miles-Carpenter X-Linked Mental Retardation Syndrome
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Syndromic Intellectual Disability
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04716	FAM50A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FAM50A	VGNC	VGNC:62116
Bos taurus	FAM50A	VGNC	VGNC:28820
Mus musculus	FAM50A	MGD	MGI:1351626
Rattus norvegicus	FAM50A	RGD	RGD:1560964
Macaca mulatta	FAM50A	VGNC	VGNC:72298
Canis familiaris	FAM50A	VGNC	VGNC:40687
Others	FAM50A	NCBI