SPECC1L - sperm antigen with calponin homology and coiled-coil domains 1 like Gene

Also Known as TBHS; CYTSA; GBBB2; TBHS1; OBLFC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23384

About SPECC1L

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:24,270,831-24,417,738 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 13.1) and 25 other tissues.

Summary

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

SPECC1L Products (4)

mRNA	Protein	Name
NM_001145468.4	NP_001138940.4	cytospin-A isoform 1
NM_001254732.3	NP_001241661.3	cytospin-A isoform 2
NM_001254733.2	NP_001241662.2	cytospin-A isoform 3
NM_015330.6	NP_056145.5	cytospin-A isoform 1

SPECC1L Protein Structure

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1117 a.a.

Protein Preferred Names	Protein Names
cytospin-A	SPECC1-like protein

SPECC1L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPECC1L	Q69YQ0	ZNF250	Homo sapiens	P15622-3	Validated Y2H	32296183
Intra	SPECC1L	Q69YQ0	EFCAB3	Homo sapiens	Q8N7B9-2	Validated Y2H	32296183
Intra	SPECC1L	Q69YQ0	PPP1R12C	Homo sapiens	Q9BZL4	Y2H Array	32296183
Intra	SPECC1L	Q69YQ0	PPP1R12C	Homo sapiens	Q9BZL4	Y2H Prey Pooling	32296183
Intra	SPECC1L	Q69YQ0	PPP1R12C	Homo sapiens	Q9BZL4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Facial Clefting, Oblique, 1	Oculomaxillofacial Dysostosis Oculomaxillofacial Dysplasia With Oblique Facial Clefts OBLFC1 Oblique Facial Clefting 1 Tessier Number 4 Facial Cleft Oblique Facial Cleft Orbitofacial Cleft Oblique Facial Clefts Richieri Costa Gorlin Syndrome Richieri-Costa-Gorlin Syndrome Facial Clefting, Oblique, Type 1
Teebi Hypertelorism Syndrome 1	Teebi Hypertelorism Syndrome Brachycephalofrontonasal Dysplasia Hypertelorism, Teebi Type TBHS1 Tbhs Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype Opitz Gbbb Syndrome Type Ii Specc1l-Related Hypertelorism Syndrome Opitz Gbbb Syndrome, Type Ii, Formerly Gbbb2, Formerly Opitz Bbbg Syndrome, Type Ii, Formerly Bbbg2, Formerly Opitz-G Syndrome, Type Ii, Formerly Ogs2, Formerly Opitz Bbb Syndrome, Type Ii, Formerly Hypertelorism-Hypospadias Syndrome, Formerly Hypertelorism With Esophageal Abnormality And Hypospadias, Formerly Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly Opitz-Frias Syndrome, Formerly Teebi Hypertelorism Syndrome-1 Craniofrontonasal Dysplasia, Teebi Type Bbb Syndrome Gbbb Syndrome G Syndrome Hypertelorism-Hypospadias Syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Hypospadias-Dysphagia Syndrome Ogs2 Opitz Bbbg Syndrome Opitz-Frias Syndrome Opitz Gbbb Syndrome, Autosomal Dominant Opitz-G Syndrome, Type Ii Opitz Oculogenitolaryngeal Syndrome, Type Ii Opitz Gbbb Syndrome, Type Ii Teebi Syndrome Opitz-G Syndrome, Type 2 Opitz Gbbb Syndrome, X-Linked Digeorge Syndrome
Opitz Gbbb Syndrome	Opitz G/Bbb Syndrome Opitz Syndrome Hypertelorism-Hypospadias Syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Opitz-Frias Syndrome Os Osx Telecanthus-Hypospadias Syndrome Opitz Gbbb Syndrome Type I Opitz Bbbg Syndrome Hypospadias-Dysphagia Syndrome Opitz Bbb/G Syndrome GBBB Opitz Gbbb Syndrome, X-Linked Opitz Syndrome, X-Linked Opitz Gbbb Syndrome, Type I, Formerly Gbbb1, Formerly Opitz-G Syndrome, Type I, Formerly Ogs1, Formerly Opitz Bbbg Syndrome, Type I, Formerly Bbbg1, Formerly Bbb Syndrome G Syndrome Gbbb Syndrome Hypertelorism Hypospadias Syndrome Hypospadias-Dysphagia, Syndrome Opitz-G Syndrome, Type 2 Telecanthus With Associated Abnormalities Hypertelorism With Esophageal Abnormalities And Hypospadias Hypertelorism-Hypospadias Sydrome Opitz Bbb Syndrome Opitz G Syndrome Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome Opitz Gbbb Syndrome 1 GBBB1 Bbbg1 Gggb1 Opitz Bbbg Syndrome Type I Opitz Gbbb Syndrome X-Linked Opitz-G Syndrome Type I Opitz Syndrome X-Linked Opitz G Syndrome, Type I Opitz Bbbg Syndrome, Type I
Macrostomia, Isolated	Macrostomia Transverse Facial Cleft Lateral Cleft, Isolated Commissural Cleft, Isolated Transverse Cleft, Isolated Tessier Number 7 Facial Cleft Commissural Facial Cleft Congenital Macrostomia
Facial Cleft	Craniofacial Cleft Craniofacial Clefts
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Elsahy-Waters Syndrome	Brachioskeletogenital Syndrome Bsg Syndrome Branchioskeletogenital Syndrome ESWS Hypospadias, Hypertelorism, Upper Lid Coloboma, And Mixed-Type Hearing Loss Branchio-Skeleto-Genital Syndrome
Widow'S Peak	Widow'S Peak Syndrome Widow'S Peak, Ptosis, And Skeletal Anomalies
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Lipofibromatosis-Like Neural Tumor
Congenital Fibrosarcoma	Infantile Fibrosarcoma
Childhood Fibrosarcoma	Pediatric Fibrosarcoma
Baraitser-Winter Syndrome	Fryns-Aftimos Syndrome Brws Cerebro-Frontofacial Syndrome, Type 3 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability Trigonocephaly Ptosis Coloboma Trigonocephaly Ptosis Intellectual Disability Cerebrofrontofacial Syndrome Type 3
Infantile Myofibromatosis	Lipofibromatosis Myofibromatosis
Coffin-Siris Syndrome 3	CSS3 Mrd15 Mental Retardation, Autosomal Dominant 15 Autosomal Dominant Mental Retardation 15 Coffin-Siris Syndrome, Type 3
Acromelic Frontonasal Dysostosis	AFND Acromelic Frontonasal Dysplasia Frontonasal Dysplasia Acromelic Toriello Syndrome Dysostosis, Acromelic Frontonasal Sweet Syndrome
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Umbilical Hernia	Hernia, Umbilical
Congenital Mesoblastic Nephroma	Mesoblastic Nephroma Nephroma, Mesoblastic
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Orofacial Cleft	Cleft, Orofacial

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-RS13656	SPECC1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPECC1L	MGD	MGI:1921642
Rattus norvegicus	SPECC1L	RGD	RGD:1309570
Others	SPECC1L	NCBI